Canonical Allele Identifier: CA375311905

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134394272G>C (hg19) ; chr9:g.131518885G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518885G>C , CM000671.2:g.131518885G>C	GRCh38
NC_000009.11:g.134394272G>C , CM000671.1:g.134394272G>C	GRCh37
NC_000009.10:g.133384093G>C	NCBI36
NG_008896.1:g.20984G>C
NG_008896.2:g.20984G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1252G>C	ENSP00000343034.7:p.Val418Leu
ENST00000404875.7:n.1954G>C
ENST00000423007.6:c.1471G>C	ENSP00000404119.2:p.Val491Leu
ENST00000677295.2:c.*1758G>C	ENSP00000504346.2:n.*1758G>C
ENST00000678264.2:c.*1597G>C	ENSP00000503157.2:n.*1597G>C
ENST00000682070.1:n.1879G>C
ENST00000682539.1:c.352G>C
ENST00000682813.1:n.1818G>C
ENST00000683392.1:n.4161G>C
ENST00000683712.1:n.1819G>C
ENST00000683900.1:n.3314G>C
ENST00000684062.1:n.2080G>C
ENST00000684579.1:n.3260G>C
ENST00000684679.1:n.641G>C
ENST00000341012.12:c.1252G>C	ENSP00000343034.7:p.Val418Leu
ENST00000372220.5:c.283G>C	ENSP00000361294.5:p.Val95Leu
ENST00000372228.9:c.1480G>C	ENSP00000361302.3:p.Val494Leu
ENST00000402686.8:c.1414G>C MANE Select	ENSP00000385797.4:p.Val472Leu
ENST00000676640.1:c.1414G>C	ENSP00000503281.1:p.Val472Leu
ENST00000676803.1:c.589G>C	ENSP00000503093.1:p.Val197Leu
ENST00000676835.1:c.*629G>C	ENSP00000502911.1:n.*629G>C
ENST00000677029.1:c.958G>C	ENSP00000502936.1:p.Val320Leu
ENST00000677099.1:c.*1124G>C	ENSP00000504553.1:n.*1124G>C
ENST00000677216.1:c.1063G>C	ENSP00000503772.1:p.Val355Leu
ENST00000677221.1:n.439G>C
ENST00000677295.1:c.*791G>C	ENSP00000504346.1:n.*791G>C
ENST00000677444.1:c.1359G>C
ENST00000677586.1:n.895G>C
ENST00000677626.1:c.1063G>C	ENSP00000503552.1:p.Val355Leu
ENST00000677677.1:n.1374G>C
ENST00000677853.1:c.*422G>C	ENSP00000503488.1:n.*422G>C
ENST00000678202.1:n.573G>C
ENST00000678264.1:c.*791G>C	ENSP00000503157.1:n.*791G>C
ENST00000678303.1:c.1324G>C	ENSP00000503696.1:p.Val442Leu
ENST00000678366.1:c.*1663G>C	ENSP00000504353.1:n.*1663G>C
ENST00000678546.1:c.*1359G>C	ENSP00000503062.1:n.*1359G>C
ENST00000678548.1:c.*1486G>C	ENSP00000503934.1:n.*1486G>C
ENST00000678626.1:n.1250G>C
ENST00000678733.1:c.495G>C
ENST00000678739.1:c.*1740G>C	ENSP00000503806.1:n.*1740G>C
ENST00000678833.1:c.*861G>C	ENSP00000503893.1:n.*861G>C
ENST00000679023.1:c.1252G>C	ENSP00000503718.1:p.Val418Leu
ENST00000679076.1:c.1033G>C
ENST00000679111.1:c.*170G>C	ENSP00000504257.1:n.*170G>C
ENST00000679189.1:c.1063G>C	ENSP00000503356.1:p.Val355Leu
ENST00000341012.11:c.1252G>C	ENSP00000343034.7:p.Val418Leu
ENST00000372220.4:c.277G>C	ENSP00000361294.4:p.Val93Leu
ENST00000372228.7:c.1480G>C	ENSP00000361302.3:p.Val494Leu
ENST00000402686.7:c.1414G>C	ENSP00000385797.3:p.Val472Leu
ENST00000404875.6:c.1063G>C	ENSP00000384531.2:p.Val355Leu
ENST00000423007.5:c.1414G>C	ENSP00000404119.1:p.Val472Leu
ENST00000467848.1:n.118G>C
ENST00000485278.5:n.1969G>C
NM_001077365.1:c.1414G>C	NP_001070833.1:p.Val472Leu
NM_001077366.1:c.1252G>C	NP_001070834.1:p.Val418Leu
NM_001136113.1:c.1414G>C	NP_001129585.1:p.Val472Leu
NM_001136114.1:c.1063G>C	NP_001129586.1:p.Val355Leu
NM_007171.3:c.1480G>C	NP_009102.3:p.Val494Leu
XM_005272156.1:c.1480G>C	XP_005272213.1:p.Val494Leu
XM_005272158.1:c.1318G>C	XP_005272215.1:p.Val440Leu
XM_005272159.1:c.1129G>C	XP_005272216.1:p.Val377Leu
XM_005272162.1:c.283G>C	XP_005272219.1:p.Val95Leu
XM_006716932.1:c.1129G>C	XP_006716995.1:p.Val377Leu
XM_011518140.1:c.1333G>C	XP_011516442.1:p.Val445Leu
XM_011518141.1:c.1267G>C	XP_011516443.1:p.Val423Leu
XM_011518142.1:c.1171G>C	XP_011516444.1:p.Val391Leu
XM_011518143.1:c.1165G>C	XP_011516445.1:p.Val389Leu
XM_011518144.1:c.*170G>C	XP_011516446.1:n.*170G>C
XM_011518145.1:c.1024G>C	XP_011516447.1:p.Val342Leu
XM_011518146.1:c.*170G>C	XP_011516448.1:n.*170G>C
XM_011518147.1:c.352G>C	XP_011516449.1:p.Val118Leu
XR_929703.1:n.1656G>C
NM_001353193.1:c.1480G>C	NP_001340122.1:p.Val494Leu
NM_001353194.1:c.1252G>C	NP_001340123.1:p.Val418Leu
NM_001353195.1:c.1063G>C	NP_001340124.1:p.Val355Leu
NM_001353196.1:c.1324G>C	NP_001340125.1:p.Val442Leu
NM_001353197.1:c.1318G>C	NP_001340126.1:p.Val440Leu
NM_001353198.1:c.1318G>C	NP_001340127.1:p.Val440Leu
NM_001353199.1:c.1129G>C	NP_001340128.1:p.Val377Leu
NM_001353200.1:c.958G>C	NP_001340129.1:p.Val320Leu
NR_148391.1:n.1464G>C
NR_148392.1:n.1682G>C
NR_148393.1:n.1603G>C
NR_148394.1:n.1357G>C
NR_148395.1:n.1755G>C
NR_148396.1:n.1389G>C
NR_148397.1:n.1514G>C
NR_148398.1:n.1469G>C
NR_148399.1:n.1995G>C
NR_148400.1:n.1594G>C
XM_005272162.3:c.283G>C	XP_005272219.1:p.Val95Leu
XM_006716932.2:c.1129G>C	XP_006716995.1:p.Val377Leu
XM_011518140.2:c.1333G>C	XP_011516442.1:p.Val445Leu
XM_011518141.2:c.1267G>C	XP_011516443.1:p.Val423Leu
XM_011518142.2:c.1171G>C	XP_011516444.1:p.Val391Leu
XM_011518143.2:c.1165G>C	XP_011516445.1:p.Val389Leu
XM_011518145.2:c.1024G>C	XP_011516447.1:p.Val342Leu
XM_017014205.2:c.283G>C	XP_016869694.1:p.Val95Leu
XM_024447380.1:c.283G>C	XP_024303148.1:p.Val95Leu
XM_024447381.1:c.589G>C	XP_024303149.1:p.Val197Leu
XM_024447382.1:c.283G>C	XP_024303150.1:p.Val95Leu
XR_001746160.2:n.1584G>C
XR_001746162.2:n.1789G>C
XR_001746164.1:n.1506G>C
XR_001746166.2:n.1801G>C
NM_001077365.2:c.1414G>C MANE Select	NP_001070833.1:p.Val472Leu
NM_001077366.2:c.1252G>C	NP_001070834.1:p.Val418Leu
NM_001136113.2:c.1414G>C	NP_001129585.1:p.Val472Leu
NM_001136114.2:c.1063G>C	NP_001129586.1:p.Val355Leu
NM_001353193.2:c.1480G>C	NP_001340122.2:p.Val494Leu
NM_001353194.2:c.1252G>C	NP_001340123.1:p.Val418Leu
NM_001353195.2:c.1063G>C	NP_001340124.1:p.Val355Leu
NM_001353196.2:c.1324G>C	NP_001340125.1:p.Val442Leu
NM_001353197.2:c.1318G>C	NP_001340126.2:p.Val440Leu
NM_001353198.2:c.1318G>C	NP_001340127.2:p.Val440Leu
NM_001353199.2:c.1129G>C	NP_001340128.2:p.Val377Leu
NM_001353200.2:c.958G>C	NP_001340129.1:p.Val320Leu
NM_001374689.1:c.1402G>C	NP_001361618.1:p.Val468Leu
NM_001374690.1:c.1365+348G>C	NP_001361619.1:n.1365+348G>C
NM_001374691.1:c.1063G>C	NP_001361620.1:p.Val355Leu
NM_001374692.1:c.1063G>C	NP_001361621.1:p.Val355Leu
NM_001374693.1:c.1063G>C	NP_001361622.1:p.Val355Leu
NM_001374695.1:c.1024G>C	NP_001361624.1:p.Val342Leu
NM_007171.4:c.1480G>C	NP_009102.4:p.Val494Leu
NR_148391.2:n.1448G>C
NR_148392.2:n.1666G>C
NR_148393.2:n.1587G>C
NR_148394.2:n.1341G>C
NR_148395.2:n.1739G>C
NR_148396.2:n.1373G>C
NR_148397.2:n.1498G>C
NR_148398.2:n.1453G>C
NR_148399.2:n.1979G>C
NR_148400.2:n.1578G>C