Canonical Allele Identifier: CA467423427

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134393849A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518462A>G , CM000671.2:g.131518462A>G	GRCh38
NC_000009.11:g.134393849A>G , CM000671.1:g.134393849A>G	GRCh37
NC_000009.10:g.133383670A>G	NCBI36
NG_008896.1:g.20561A>G
NG_008896.2:g.20561A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1128A>G	ENSP00000343034.7:p.Gly376=
ENST00000404875.7:n.1830A>G
ENST00000423007.6:c.1347A>G	ENSP00000404119.2:p.Gly449=
ENST00000677295.2:c.*1634A>G	ENSP00000504346.2:n.*1634A>G
ENST00000678264.2:c.*1473A>G	ENSP00000503157.2:n.*1473A>G
ENST00000682070.1:n.1755A>G
ENST00000682535.1:n.62A>G
ENST00000682539.1:c.228A>G
ENST00000682813.1:n.1555A>G
ENST00000683110.1:n.18A>G
ENST00000683392.1:n.4037A>G
ENST00000683712.1:n.1695A>G
ENST00000683900.1:n.3190A>G
ENST00000684062.1:n.1956A>G
ENST00000684579.1:n.3136A>G
ENST00000684679.1:n.517A>G
ENST00000341012.12:c.1128A>G	ENSP00000343034.7:p.Gly376=
ENST00000372220.5:c.159A>G	ENSP00000361294.5:p.Gly53=
ENST00000372228.9:c.1356A>G	ENSP00000361302.3:p.Gly452=
ENST00000402686.8:c.1290A>G MANE Select	ENSP00000385797.4:p.Gly430=
ENST00000676640.1:c.1290A>G	ENSP00000503281.1:p.Gly430=
ENST00000676803.1:c.465A>G	ENSP00000503093.1:p.Gly155=
ENST00000676835.1:c.*505A>G	ENSP00000502911.1:n.*505A>G
ENST00000677029.1:c.834A>G	ENSP00000502936.1:p.Gly278=
ENST00000677099.1:c.*1000A>G	ENSP00000504553.1:n.*1000A>G
ENST00000677216.1:c.939A>G	ENSP00000503772.1:p.Gly313=
ENST00000677221.1:n.315A>G
ENST00000677295.1:c.*667A>G	ENSP00000504346.1:n.*667A>G
ENST00000677444.1:c.1096A>G
ENST00000677586.1:n.771A>G
ENST00000677626.1:c.939A>G	ENSP00000503552.1:p.Gly313=
ENST00000677677.1:n.1250A>G
ENST00000677853.1:c.*298A>G	ENSP00000503488.1:n.*298A>G
ENST00000677983.1:n.379A>G
ENST00000678202.1:n.310A>G
ENST00000678264.1:c.*667A>G	ENSP00000503157.1:n.*667A>G
ENST00000678303.1:c.1200A>G	ENSP00000503696.1:p.Gly400=
ENST00000678366.1:c.*1539A>G	ENSP00000504353.1:n.*1539A>G
ENST00000678546.1:c.*1235A>G	ENSP00000503062.1:n.*1235A>G
ENST00000678548.1:c.*1362A>G	ENSP00000503934.1:n.*1362A>G
ENST00000678626.1:n.987A>G
ENST00000678733.1:c.371A>G
ENST00000678739.1:c.*1616A>G	ENSP00000503806.1:n.*1616A>G
ENST00000678795.1:n.377A>G
ENST00000678833.1:c.*737A>G	ENSP00000503893.1:n.*737A>G
ENST00000678942.1:c.470A>G	ENSP00000504690.1:n.470A>G
ENST00000679023.1:c.1128A>G	ENSP00000503718.1:p.Gly376=
ENST00000679076.1:c.909A>G
ENST00000679111.1:c.1290A>G	ENSP00000504257.1:p.Gly430=
ENST00000679189.1:c.939A>G	ENSP00000503356.1:p.Gly313=
ENST00000341012.11:c.1128A>G	ENSP00000343034.7:p.Gly376=
ENST00000372220.4:c.153A>G	ENSP00000361294.4:p.Gly51=
ENST00000372228.7:c.1356A>G	ENSP00000361302.3:p.Gly452=
ENST00000402686.7:c.1290A>G	ENSP00000385797.3:p.Gly430=
ENST00000404875.6:c.939A>G	ENSP00000384531.2:p.Gly313=
ENST00000423007.5:c.1290A>G	ENSP00000404119.1:p.Gly430=
ENST00000485278.5:n.1845A>G
NM_001077365.1:c.1290A>G	NP_001070833.1:p.Gly430=
NM_001077366.1:c.1128A>G	NP_001070834.1:p.Gly376=
NM_001136113.1:c.1290A>G	NP_001129585.1:p.Gly430=
NM_001136114.1:c.939A>G	NP_001129586.1:p.Gly313=
NM_007171.3:c.1356A>G	NP_009102.3:p.Gly452=
XM_005272156.1:c.1356A>G	XP_005272213.1:p.Gly452=
XM_005272158.1:c.1194A>G	XP_005272215.1:p.Gly398=
XM_005272159.1:c.1005A>G	XP_005272216.1:p.Gly335=
XM_005272162.1:c.159A>G	XP_005272219.1:p.Gly53=
XM_006716932.1:c.1005A>G	XP_006716995.1:p.Gly335=
XM_011518140.1:c.1209A>G	XP_011516442.1:p.Gly403=
XM_011518141.1:c.1143A>G	XP_011516443.1:p.Gly381=
XM_011518142.1:c.1047A>G	XP_011516444.1:p.Gly349=
XM_011518143.1:c.1041A>G	XP_011516445.1:p.Gly347=
XM_011518144.1:c.1356A>G	XP_011516446.1:p.Gly452=
XM_011518145.1:c.900A>G	XP_011516447.1:p.Gly300=
XM_011518146.1:c.1041A>G	XP_011516448.1:p.Gly347=
XM_011518147.1:c.228A>G	XP_011516449.1:p.Gly76=
XR_929703.1:n.1532A>G
NM_001353193.1:c.1356A>G	NP_001340122.1:p.Gly452=
NM_001353194.1:c.1128A>G	NP_001340123.1:p.Gly376=
NM_001353195.1:c.939A>G	NP_001340124.1:p.Gly313=
NM_001353196.1:c.1200A>G	NP_001340125.1:p.Gly400=
NM_001353197.1:c.1194A>G	NP_001340126.1:p.Gly398=
NM_001353198.1:c.1194A>G	NP_001340127.1:p.Gly398=
NM_001353199.1:c.1005A>G	NP_001340128.1:p.Gly335=
NM_001353200.1:c.834A>G	NP_001340129.1:p.Gly278=
NR_148391.1:n.1340A>G
NR_148392.1:n.1558A>G
NR_148393.1:n.1340A>G
NR_148394.1:n.1233A>G
NR_148395.1:n.1492A>G
NR_148396.1:n.1126A>G
NR_148397.1:n.1390A>G
NR_148398.1:n.1345A>G
NR_148399.1:n.1732A>G
NR_148400.1:n.1331A>G
XM_005272162.3:c.159A>G	XP_005272219.1:p.Gly53=
XM_006716932.2:c.1005A>G	XP_006716995.1:p.Gly335=
XM_011518140.2:c.1209A>G	XP_011516442.1:p.Gly403=
XM_011518141.2:c.1143A>G	XP_011516443.1:p.Gly381=
XM_011518142.2:c.1047A>G	XP_011516444.1:p.Gly349=
XM_011518143.2:c.1041A>G	XP_011516445.1:p.Gly347=
XM_011518145.2:c.900A>G	XP_011516447.1:p.Gly300=
XM_017014205.2:c.159A>G	XP_016869694.1:p.Gly53=
XM_024447380.1:c.159A>G	XP_024303148.1:p.Gly53=
XM_024447381.1:c.465A>G	XP_024303149.1:p.Gly155=
XM_024447382.1:c.159A>G	XP_024303150.1:p.Gly53=
XR_001746160.2:n.1460A>G
XR_001746162.2:n.1526A>G
XR_001746164.1:n.1243A>G
XR_001746166.2:n.1677A>G
NM_001077365.2:c.1290A>G MANE Select	NP_001070833.1:p.Gly430=
NM_001077366.2:c.1128A>G	NP_001070834.1:p.Gly376=
NM_001136113.2:c.1290A>G	NP_001129585.1:p.Gly430=
NM_001136114.2:c.939A>G	NP_001129586.1:p.Gly313=
NM_001353193.2:c.1356A>G	NP_001340122.2:p.Gly452=
NM_001353194.2:c.1128A>G	NP_001340123.1:p.Gly376=
NM_001353195.2:c.939A>G	NP_001340124.1:p.Gly313=
NM_001353196.2:c.1200A>G	NP_001340125.1:p.Gly400=
NM_001353197.2:c.1194A>G	NP_001340126.2:p.Gly398=
NM_001353198.2:c.1194A>G	NP_001340127.2:p.Gly398=
NM_001353199.2:c.1005A>G	NP_001340128.2:p.Gly335=
NM_001353200.2:c.834A>G	NP_001340129.1:p.Gly278=
NM_001374689.1:c.1278A>G	NP_001361618.1:p.Gly426=
NM_001374690.1:c.1290A>G	NP_001361619.1:p.Gly430=
NM_001374691.1:c.939A>G	NP_001361620.1:p.Gly313=
NM_001374692.1:c.939A>G	NP_001361621.1:p.Gly313=
NM_001374693.1:c.939A>G	NP_001361622.1:p.Gly313=
NM_001374695.1:c.900A>G	NP_001361624.1:p.Gly300=
NM_007171.4:c.1356A>G	NP_009102.4:p.Gly452=
NR_148391.2:n.1324A>G
NR_148392.2:n.1542A>G
NR_148393.2:n.1324A>G
NR_148394.2:n.1217A>G
NR_148395.2:n.1476A>G
NR_148396.2:n.1110A>G
NR_148397.2:n.1374A>G
NR_148398.2:n.1329A>G
NR_148399.2:n.1716A>G
NR_148400.2:n.1315A>G