Canonical Allele Identifier: CA375311781

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134394243C>G (hg19) ; chr9:g.131518856C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518856C>G , CM000671.2:g.131518856C>G	GRCh38
NC_000009.11:g.134394243C>G , CM000671.1:g.134394243C>G	GRCh37
NC_000009.10:g.133384064C>G	NCBI36
NG_008896.1:g.20955C>G
NG_008896.2:g.20955C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1223C>G	ENSP00000343034.7:p.Pro408Arg
ENST00000404875.7:n.1925C>G
ENST00000423007.6:c.1442C>G	ENSP00000404119.2:p.Pro481Arg
ENST00000677295.2:c.*1729C>G	ENSP00000504346.2:n.*1729C>G
ENST00000678264.2:c.*1568C>G	ENSP00000503157.2:n.*1568C>G
ENST00000682070.1:n.1850C>G
ENST00000682539.1:c.323C>G
ENST00000682813.1:n.1789C>G
ENST00000683392.1:n.4132C>G
ENST00000683712.1:n.1790C>G
ENST00000683900.1:n.3285C>G
ENST00000684062.1:n.2051C>G
ENST00000684579.1:n.3231C>G
ENST00000684679.1:n.612C>G
ENST00000341012.12:c.1223C>G	ENSP00000343034.7:p.Pro408Arg
ENST00000372220.5:c.254C>G	ENSP00000361294.5:p.Pro85Arg
ENST00000372228.9:c.1451C>G	ENSP00000361302.3:p.Pro484Arg
ENST00000402686.8:c.1385C>G MANE Select	ENSP00000385797.4:p.Pro462Arg
ENST00000676640.1:c.1385C>G	ENSP00000503281.1:p.Pro462Arg
ENST00000676803.1:c.560C>G	ENSP00000503093.1:p.Pro187Arg
ENST00000676835.1:c.*600C>G	ENSP00000502911.1:n.*600C>G
ENST00000677029.1:c.929C>G	ENSP00000502936.1:p.Pro310Arg
ENST00000677099.1:c.*1095C>G	ENSP00000504553.1:n.*1095C>G
ENST00000677216.1:c.1034C>G	ENSP00000503772.1:p.Pro345Arg
ENST00000677221.1:n.410C>G
ENST00000677295.1:c.*762C>G	ENSP00000504346.1:n.*762C>G
ENST00000677444.1:c.1330C>G
ENST00000677586.1:n.866C>G
ENST00000677626.1:c.1034C>G	ENSP00000503552.1:p.Pro345Arg
ENST00000677677.1:n.1345C>G
ENST00000677853.1:c.*393C>G	ENSP00000503488.1:n.*393C>G
ENST00000678202.1:n.544C>G
ENST00000678264.1:c.*762C>G	ENSP00000503157.1:n.*762C>G
ENST00000678303.1:c.1295C>G	ENSP00000503696.1:p.Pro432Arg
ENST00000678366.1:c.*1634C>G	ENSP00000504353.1:n.*1634C>G
ENST00000678546.1:c.*1330C>G	ENSP00000503062.1:n.*1330C>G
ENST00000678548.1:c.*1457C>G	ENSP00000503934.1:n.*1457C>G
ENST00000678626.1:n.1221C>G
ENST00000678733.1:c.466C>G
ENST00000678739.1:c.*1711C>G	ENSP00000503806.1:n.*1711C>G
ENST00000678833.1:c.*832C>G	ENSP00000503893.1:n.*832C>G
ENST00000679023.1:c.1223C>G	ENSP00000503718.1:p.Pro408Arg
ENST00000679076.1:c.1004C>G
ENST00000679111.1:c.*141C>G	ENSP00000504257.1:n.*141C>G
ENST00000679189.1:c.1034C>G	ENSP00000503356.1:p.Pro345Arg
ENST00000341012.11:c.1223C>G	ENSP00000343034.7:p.Pro408Arg
ENST00000372220.4:c.248C>G	ENSP00000361294.4:p.Pro83Arg
ENST00000372228.7:c.1451C>G	ENSP00000361302.3:p.Pro484Arg
ENST00000402686.7:c.1385C>G	ENSP00000385797.3:p.Pro462Arg
ENST00000404875.6:c.1034C>G	ENSP00000384531.2:p.Pro345Arg
ENST00000423007.5:c.1385C>G	ENSP00000404119.1:p.Pro462Arg
ENST00000467848.1:n.89C>G
ENST00000485278.5:n.1940C>G
NM_001077365.1:c.1385C>G	NP_001070833.1:p.Pro462Arg
NM_001077366.1:c.1223C>G	NP_001070834.1:p.Pro408Arg
NM_001136113.1:c.1385C>G	NP_001129585.1:p.Pro462Arg
NM_001136114.1:c.1034C>G	NP_001129586.1:p.Pro345Arg
NM_007171.3:c.1451C>G	NP_009102.3:p.Pro484Arg
XM_005272156.1:c.1451C>G	XP_005272213.1:p.Pro484Arg
XM_005272158.1:c.1289C>G	XP_005272215.1:p.Pro430Arg
XM_005272159.1:c.1100C>G	XP_005272216.1:p.Pro367Arg
XM_005272162.1:c.254C>G	XP_005272219.1:p.Pro85Arg
XM_006716932.1:c.1100C>G	XP_006716995.1:p.Pro367Arg
XM_011518140.1:c.1304C>G	XP_011516442.1:p.Pro435Arg
XM_011518141.1:c.1238C>G	XP_011516443.1:p.Pro413Arg
XM_011518142.1:c.1142C>G	XP_011516444.1:p.Pro381Arg
XM_011518143.1:c.1136C>G	XP_011516445.1:p.Pro379Arg
XM_011518144.1:c.*141C>G	XP_011516446.1:n.*141C>G
XM_011518145.1:c.995C>G	XP_011516447.1:p.Pro332Arg
XM_011518146.1:c.*141C>G	XP_011516448.1:n.*141C>G
XM_011518147.1:c.323C>G	XP_011516449.1:p.Pro108Arg
XR_929703.1:n.1627C>G
NM_001353193.1:c.1451C>G	NP_001340122.1:p.Pro484Arg
NM_001353194.1:c.1223C>G	NP_001340123.1:p.Pro408Arg
NM_001353195.1:c.1034C>G	NP_001340124.1:p.Pro345Arg
NM_001353196.1:c.1295C>G	NP_001340125.1:p.Pro432Arg
NM_001353197.1:c.1289C>G	NP_001340126.1:p.Pro430Arg
NM_001353198.1:c.1289C>G	NP_001340127.1:p.Pro430Arg
NM_001353199.1:c.1100C>G	NP_001340128.1:p.Pro367Arg
NM_001353200.1:c.929C>G	NP_001340129.1:p.Pro310Arg
NR_148391.1:n.1435C>G
NR_148392.1:n.1653C>G
NR_148393.1:n.1574C>G
NR_148394.1:n.1328C>G
NR_148395.1:n.1726C>G
NR_148396.1:n.1360C>G
NR_148397.1:n.1485C>G
NR_148398.1:n.1440C>G
NR_148399.1:n.1966C>G
NR_148400.1:n.1565C>G
XM_005272162.3:c.254C>G	XP_005272219.1:p.Pro85Arg
XM_006716932.2:c.1100C>G	XP_006716995.1:p.Pro367Arg
XM_011518140.2:c.1304C>G	XP_011516442.1:p.Pro435Arg
XM_011518141.2:c.1238C>G	XP_011516443.1:p.Pro413Arg
XM_011518142.2:c.1142C>G	XP_011516444.1:p.Pro381Arg
XM_011518143.2:c.1136C>G	XP_011516445.1:p.Pro379Arg
XM_011518145.2:c.995C>G	XP_011516447.1:p.Pro332Arg
XM_017014205.2:c.254C>G	XP_016869694.1:p.Pro85Arg
XM_024447380.1:c.254C>G	XP_024303148.1:p.Pro85Arg
XM_024447381.1:c.560C>G	XP_024303149.1:p.Pro187Arg
XM_024447382.1:c.254C>G	XP_024303150.1:p.Pro85Arg
XR_001746160.2:n.1555C>G
XR_001746162.2:n.1760C>G
XR_001746164.1:n.1477C>G
XR_001746166.2:n.1772C>G
NM_001077365.2:c.1385C>G MANE Select	NP_001070833.1:p.Pro462Arg
NM_001077366.2:c.1223C>G	NP_001070834.1:p.Pro408Arg
NM_001136113.2:c.1385C>G	NP_001129585.1:p.Pro462Arg
NM_001136114.2:c.1034C>G	NP_001129586.1:p.Pro345Arg
NM_001353193.2:c.1451C>G	NP_001340122.2:p.Pro484Arg
NM_001353194.2:c.1223C>G	NP_001340123.1:p.Pro408Arg
NM_001353195.2:c.1034C>G	NP_001340124.1:p.Pro345Arg
NM_001353196.2:c.1295C>G	NP_001340125.1:p.Pro432Arg
NM_001353197.2:c.1289C>G	NP_001340126.2:p.Pro430Arg
NM_001353198.2:c.1289C>G	NP_001340127.2:p.Pro430Arg
NM_001353199.2:c.1100C>G	NP_001340128.2:p.Pro367Arg
NM_001353200.2:c.929C>G	NP_001340129.1:p.Pro310Arg
NM_001374689.1:c.1373C>G	NP_001361618.1:p.Pro458Arg
NM_001374690.1:c.1365+319C>G	NP_001361619.1:n.1365+319C>G
NM_001374691.1:c.1034C>G	NP_001361620.1:p.Pro345Arg
NM_001374692.1:c.1034C>G	NP_001361621.1:p.Pro345Arg
NM_001374693.1:c.1034C>G	NP_001361622.1:p.Pro345Arg
NM_001374695.1:c.995C>G	NP_001361624.1:p.Pro332Arg
NM_007171.4:c.1451C>G	NP_009102.4:p.Pro484Arg
NR_148391.2:n.1419C>G
NR_148392.2:n.1637C>G
NR_148393.2:n.1558C>G
NR_148394.2:n.1312C>G
NR_148395.2:n.1710C>G
NR_148396.2:n.1344C>G
NR_148397.2:n.1469C>G
NR_148398.2:n.1424C>G
NR_148399.2:n.1950C>G
NR_148400.2:n.1549C>G