Canonical Allele Identifier: CA375311547

Gene: POMT1

Linked Data

• gnomAD v4: 9-131518530-T-G
• MyVariant Identifiers: chr9:g.134393917T>G (hg19) ; chr9:g.131518530T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518530T>G , CM000671.2:g.131518530T>G	GRCh38
NC_000009.11:g.134393917T>G , CM000671.1:g.134393917T>G	GRCh37
NC_000009.10:g.133383738T>G	NCBI36
NG_008896.1:g.20629T>G
NG_008896.2:g.20629T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1196T>G	ENSP00000343034.7:p.Val399Gly
ENST00000404875.7:n.1898T>G
ENST00000423007.6:c.1415T>G	ENSP00000404119.2:p.Val472Gly
ENST00000677295.2:c.*1702T>G	ENSP00000504346.2:n.*1702T>G
ENST00000678264.2:c.*1541T>G	ENSP00000503157.2:n.*1541T>G
ENST00000682070.1:n.1823T>G
ENST00000682535.1:n.130T>G
ENST00000682539.1:c.296T>G
ENST00000682813.1:n.1623T>G
ENST00000683110.1:n.86T>G
ENST00000683392.1:n.4105T>G
ENST00000683712.1:n.1763T>G
ENST00000683900.1:n.3258T>G
ENST00000684062.1:n.2024T>G
ENST00000684579.1:n.3204T>G
ENST00000684679.1:n.585T>G
ENST00000341012.12:c.1196T>G	ENSP00000343034.7:p.Val399Gly
ENST00000372220.5:c.227T>G	ENSP00000361294.5:p.Val76Gly
ENST00000372228.9:c.1424T>G	ENSP00000361302.3:p.Val475Gly
ENST00000402686.8:c.1358T>G MANE Select	ENSP00000385797.4:p.Val453Gly
ENST00000676640.1:c.1358T>G	ENSP00000503281.1:p.Val453Gly
ENST00000676803.1:c.533T>G	ENSP00000503093.1:p.Val178Gly
ENST00000676835.1:c.*573T>G	ENSP00000502911.1:n.*573T>G
ENST00000677029.1:c.902T>G	ENSP00000502936.1:p.Val301Gly
ENST00000677099.1:c.*1068T>G	ENSP00000504553.1:n.*1068T>G
ENST00000677216.1:c.1007T>G	ENSP00000503772.1:p.Val336Gly
ENST00000677221.1:n.383T>G
ENST00000677295.1:c.*735T>G	ENSP00000504346.1:n.*735T>G
ENST00000677444.1:c.1164T>G
ENST00000677586.1:n.839T>G
ENST00000677626.1:c.1007T>G	ENSP00000503552.1:p.Val336Gly
ENST00000677677.1:n.1318T>G
ENST00000677853.1:c.*366T>G	ENSP00000503488.1:n.*366T>G
ENST00000677983.1:n.447T>G
ENST00000678202.1:n.378T>G
ENST00000678264.1:c.*735T>G	ENSP00000503157.1:n.*735T>G
ENST00000678303.1:c.1268T>G	ENSP00000503696.1:p.Val423Gly
ENST00000678366.1:c.*1607T>G	ENSP00000504353.1:n.*1607T>G
ENST00000678546.1:c.*1303T>G	ENSP00000503062.1:n.*1303T>G
ENST00000678548.1:c.*1430T>G	ENSP00000503934.1:n.*1430T>G
ENST00000678626.1:n.1055T>G
ENST00000678733.1:c.439T>G
ENST00000678739.1:c.*1684T>G	ENSP00000503806.1:n.*1684T>G
ENST00000678795.1:n.445T>G
ENST00000678833.1:c.*805T>G	ENSP00000503893.1:n.*805T>G
ENST00000678942.1:c.538T>G	ENSP00000504690.1:n.538T>G
ENST00000679023.1:c.1196T>G	ENSP00000503718.1:p.Val399Gly
ENST00000679076.1:c.977T>G
ENST00000679111.1:c.1358T>G	ENSP00000504257.1:p.Val453Gly
ENST00000679189.1:c.1007T>G	ENSP00000503356.1:p.Val336Gly
ENST00000341012.11:c.1196T>G	ENSP00000343034.7:p.Val399Gly
ENST00000372220.4:c.221T>G	ENSP00000361294.4:p.Val74Gly
ENST00000372228.7:c.1424T>G	ENSP00000361302.3:p.Val475Gly
ENST00000402686.7:c.1358T>G	ENSP00000385797.3:p.Val453Gly
ENST00000404875.6:c.1007T>G	ENSP00000384531.2:p.Val336Gly
ENST00000423007.5:c.1358T>G	ENSP00000404119.1:p.Val453Gly
ENST00000485278.5:n.1913T>G
NM_001077365.1:c.1358T>G	NP_001070833.1:p.Val453Gly
NM_001077366.1:c.1196T>G	NP_001070834.1:p.Val399Gly
NM_001136113.1:c.1358T>G	NP_001129585.1:p.Val453Gly
NM_001136114.1:c.1007T>G	NP_001129586.1:p.Val336Gly
NM_007171.3:c.1424T>G	NP_009102.3:p.Val475Gly
XM_005272156.1:c.1424T>G	XP_005272213.1:p.Val475Gly
XM_005272158.1:c.1262T>G	XP_005272215.1:p.Val421Gly
XM_005272159.1:c.1073T>G	XP_005272216.1:p.Val358Gly
XM_005272162.1:c.227T>G	XP_005272219.1:p.Val76Gly
XM_006716932.1:c.1073T>G	XP_006716995.1:p.Val358Gly
XM_011518140.1:c.1277T>G	XP_011516442.1:p.Val426Gly
XM_011518141.1:c.1211T>G	XP_011516443.1:p.Val404Gly
XM_011518142.1:c.1115T>G	XP_011516444.1:p.Val372Gly
XM_011518143.1:c.1109T>G	XP_011516445.1:p.Val370Gly
XM_011518144.1:c.1424T>G	XP_011516446.1:p.Val475Gly
XM_011518145.1:c.968T>G	XP_011516447.1:p.Val323Gly
XM_011518146.1:c.1109T>G	XP_011516448.1:p.Val370Gly
XM_011518147.1:c.296T>G	XP_011516449.1:p.Val99Gly
XR_929703.1:n.1600T>G
NM_001353193.1:c.1424T>G	NP_001340122.1:p.Val475Gly
NM_001353194.1:c.1196T>G	NP_001340123.1:p.Val399Gly
NM_001353195.1:c.1007T>G	NP_001340124.1:p.Val336Gly
NM_001353196.1:c.1268T>G	NP_001340125.1:p.Val423Gly
NM_001353197.1:c.1262T>G	NP_001340126.1:p.Val421Gly
NM_001353198.1:c.1262T>G	NP_001340127.1:p.Val421Gly
NM_001353199.1:c.1073T>G	NP_001340128.1:p.Val358Gly
NM_001353200.1:c.902T>G	NP_001340129.1:p.Val301Gly
NR_148391.1:n.1408T>G
NR_148392.1:n.1626T>G
NR_148393.1:n.1408T>G
NR_148394.1:n.1301T>G
NR_148395.1:n.1560T>G
NR_148396.1:n.1194T>G
NR_148397.1:n.1458T>G
NR_148398.1:n.1413T>G
NR_148399.1:n.1800T>G
NR_148400.1:n.1399T>G
XM_005272162.3:c.227T>G	XP_005272219.1:p.Val76Gly
XM_006716932.2:c.1073T>G	XP_006716995.1:p.Val358Gly
XM_011518140.2:c.1277T>G	XP_011516442.1:p.Val426Gly
XM_011518141.2:c.1211T>G	XP_011516443.1:p.Val404Gly
XM_011518142.2:c.1115T>G	XP_011516444.1:p.Val372Gly
XM_011518143.2:c.1109T>G	XP_011516445.1:p.Val370Gly
XM_011518145.2:c.968T>G	XP_011516447.1:p.Val323Gly
XM_017014205.2:c.227T>G	XP_016869694.1:p.Val76Gly
XM_024447380.1:c.227T>G	XP_024303148.1:p.Val76Gly
XM_024447381.1:c.533T>G	XP_024303149.1:p.Val178Gly
XM_024447382.1:c.227T>G	XP_024303150.1:p.Val76Gly
XR_001746160.2:n.1528T>G
XR_001746162.2:n.1594T>G
XR_001746164.1:n.1311T>G
XR_001746166.2:n.1745T>G
NM_001077365.2:c.1358T>G MANE Select	NP_001070833.1:p.Val453Gly
NM_001077366.2:c.1196T>G	NP_001070834.1:p.Val399Gly
NM_001136113.2:c.1358T>G	NP_001129585.1:p.Val453Gly
NM_001136114.2:c.1007T>G	NP_001129586.1:p.Val336Gly
NM_001353193.2:c.1424T>G	NP_001340122.2:p.Val475Gly
NM_001353194.2:c.1196T>G	NP_001340123.1:p.Val399Gly
NM_001353195.2:c.1007T>G	NP_001340124.1:p.Val336Gly
NM_001353196.2:c.1268T>G	NP_001340125.1:p.Val423Gly
NM_001353197.2:c.1262T>G	NP_001340126.2:p.Val421Gly
NM_001353198.2:c.1262T>G	NP_001340127.2:p.Val421Gly
NM_001353199.2:c.1073T>G	NP_001340128.2:p.Val358Gly
NM_001353200.2:c.902T>G	NP_001340129.1:p.Val301Gly
NM_001374689.1:c.1346T>G	NP_001361618.1:p.Val449Gly
NM_001374690.1:c.1358T>G	NP_001361619.1:p.Val453Gly
NM_001374691.1:c.1007T>G	NP_001361620.1:p.Val336Gly
NM_001374692.1:c.1007T>G	NP_001361621.1:p.Val336Gly
NM_001374693.1:c.1007T>G	NP_001361622.1:p.Val336Gly
NM_001374695.1:c.968T>G	NP_001361624.1:p.Val323Gly
NM_007171.4:c.1424T>G	NP_009102.4:p.Val475Gly
NR_148391.2:n.1392T>G
NR_148392.2:n.1610T>G
NR_148393.2:n.1392T>G
NR_148394.2:n.1285T>G
NR_148395.2:n.1544T>G
NR_148396.2:n.1178T>G
NR_148397.2:n.1442T>G
NR_148398.2:n.1397T>G
NR_148399.2:n.1784T>G
NR_148400.2:n.1383T>G