Canonical Allele Identifier: CA375311537

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134393916G>C (hg19) ; chr9:g.131518529G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518529G>C , CM000671.2:g.131518529G>C	GRCh38
NC_000009.11:g.134393916G>C , CM000671.1:g.134393916G>C	GRCh37
NC_000009.10:g.133383737G>C	NCBI36
NG_008896.1:g.20628G>C
NG_008896.2:g.20628G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1195G>C	ENSP00000343034.7:p.Val399Leu
ENST00000404875.7:n.1897G>C
ENST00000423007.6:c.1414G>C	ENSP00000404119.2:p.Val472Leu
ENST00000677295.2:c.*1701G>C	ENSP00000504346.2:n.*1701G>C
ENST00000678264.2:c.*1540G>C	ENSP00000503157.2:n.*1540G>C
ENST00000682070.1:n.1822G>C
ENST00000682535.1:n.129G>C
ENST00000682539.1:c.295G>C
ENST00000682813.1:n.1622G>C
ENST00000683110.1:n.85G>C
ENST00000683392.1:n.4104G>C
ENST00000683712.1:n.1762G>C
ENST00000683900.1:n.3257G>C
ENST00000684062.1:n.2023G>C
ENST00000684579.1:n.3203G>C
ENST00000684679.1:n.584G>C
ENST00000341012.12:c.1195G>C	ENSP00000343034.7:p.Val399Leu
ENST00000372220.5:c.226G>C	ENSP00000361294.5:p.Val76Leu
ENST00000372228.9:c.1423G>C	ENSP00000361302.3:p.Val475Leu
ENST00000402686.8:c.1357G>C MANE Select	ENSP00000385797.4:p.Val453Leu
ENST00000676640.1:c.1357G>C	ENSP00000503281.1:p.Val453Leu
ENST00000676803.1:c.532G>C	ENSP00000503093.1:p.Val178Leu
ENST00000676835.1:c.*572G>C	ENSP00000502911.1:n.*572G>C
ENST00000677029.1:c.901G>C	ENSP00000502936.1:p.Val301Leu
ENST00000677099.1:c.*1067G>C	ENSP00000504553.1:n.*1067G>C
ENST00000677216.1:c.1006G>C	ENSP00000503772.1:p.Val336Leu
ENST00000677221.1:n.382G>C
ENST00000677295.1:c.*734G>C	ENSP00000504346.1:n.*734G>C
ENST00000677444.1:c.1163G>C
ENST00000677586.1:n.838G>C
ENST00000677626.1:c.1006G>C	ENSP00000503552.1:p.Val336Leu
ENST00000677677.1:n.1317G>C
ENST00000677853.1:c.*365G>C	ENSP00000503488.1:n.*365G>C
ENST00000677983.1:n.446G>C
ENST00000678202.1:n.377G>C
ENST00000678264.1:c.*734G>C	ENSP00000503157.1:n.*734G>C
ENST00000678303.1:c.1267G>C	ENSP00000503696.1:p.Val423Leu
ENST00000678366.1:c.*1606G>C	ENSP00000504353.1:n.*1606G>C
ENST00000678546.1:c.*1302G>C	ENSP00000503062.1:n.*1302G>C
ENST00000678548.1:c.*1429G>C	ENSP00000503934.1:n.*1429G>C
ENST00000678626.1:n.1054G>C
ENST00000678733.1:c.438G>C
ENST00000678739.1:c.*1683G>C	ENSP00000503806.1:n.*1683G>C
ENST00000678795.1:n.444G>C
ENST00000678833.1:c.*804G>C	ENSP00000503893.1:n.*804G>C
ENST00000678942.1:c.537G>C	ENSP00000504690.1:n.537G>C
ENST00000679023.1:c.1195G>C	ENSP00000503718.1:p.Val399Leu
ENST00000679076.1:c.976G>C
ENST00000679111.1:c.1357G>C	ENSP00000504257.1:p.Val453Leu
ENST00000679189.1:c.1006G>C	ENSP00000503356.1:p.Val336Leu
ENST00000341012.11:c.1195G>C	ENSP00000343034.7:p.Val399Leu
ENST00000372220.4:c.220G>C	ENSP00000361294.4:p.Val74Leu
ENST00000372228.7:c.1423G>C	ENSP00000361302.3:p.Val475Leu
ENST00000402686.7:c.1357G>C	ENSP00000385797.3:p.Val453Leu
ENST00000404875.6:c.1006G>C	ENSP00000384531.2:p.Val336Leu
ENST00000423007.5:c.1357G>C	ENSP00000404119.1:p.Val453Leu
ENST00000485278.5:n.1912G>C
NM_001077365.1:c.1357G>C	NP_001070833.1:p.Val453Leu
NM_001077366.1:c.1195G>C	NP_001070834.1:p.Val399Leu
NM_001136113.1:c.1357G>C	NP_001129585.1:p.Val453Leu
NM_001136114.1:c.1006G>C	NP_001129586.1:p.Val336Leu
NM_007171.3:c.1423G>C	NP_009102.3:p.Val475Leu
XM_005272156.1:c.1423G>C	XP_005272213.1:p.Val475Leu
XM_005272158.1:c.1261G>C	XP_005272215.1:p.Val421Leu
XM_005272159.1:c.1072G>C	XP_005272216.1:p.Val358Leu
XM_005272162.1:c.226G>C	XP_005272219.1:p.Val76Leu
XM_006716932.1:c.1072G>C	XP_006716995.1:p.Val358Leu
XM_011518140.1:c.1276G>C	XP_011516442.1:p.Val426Leu
XM_011518141.1:c.1210G>C	XP_011516443.1:p.Val404Leu
XM_011518142.1:c.1114G>C	XP_011516444.1:p.Val372Leu
XM_011518143.1:c.1108G>C	XP_011516445.1:p.Val370Leu
XM_011518144.1:c.1423G>C	XP_011516446.1:p.Val475Leu
XM_011518145.1:c.967G>C	XP_011516447.1:p.Val323Leu
XM_011518146.1:c.1108G>C	XP_011516448.1:p.Val370Leu
XM_011518147.1:c.295G>C	XP_011516449.1:p.Val99Leu
XR_929703.1:n.1599G>C
NM_001353193.1:c.1423G>C	NP_001340122.1:p.Val475Leu
NM_001353194.1:c.1195G>C	NP_001340123.1:p.Val399Leu
NM_001353195.1:c.1006G>C	NP_001340124.1:p.Val336Leu
NM_001353196.1:c.1267G>C	NP_001340125.1:p.Val423Leu
NM_001353197.1:c.1261G>C	NP_001340126.1:p.Val421Leu
NM_001353198.1:c.1261G>C	NP_001340127.1:p.Val421Leu
NM_001353199.1:c.1072G>C	NP_001340128.1:p.Val358Leu
NM_001353200.1:c.901G>C	NP_001340129.1:p.Val301Leu
NR_148391.1:n.1407G>C
NR_148392.1:n.1625G>C
NR_148393.1:n.1407G>C
NR_148394.1:n.1300G>C
NR_148395.1:n.1559G>C
NR_148396.1:n.1193G>C
NR_148397.1:n.1457G>C
NR_148398.1:n.1412G>C
NR_148399.1:n.1799G>C
NR_148400.1:n.1398G>C
XM_005272162.3:c.226G>C	XP_005272219.1:p.Val76Leu
XM_006716932.2:c.1072G>C	XP_006716995.1:p.Val358Leu
XM_011518140.2:c.1276G>C	XP_011516442.1:p.Val426Leu
XM_011518141.2:c.1210G>C	XP_011516443.1:p.Val404Leu
XM_011518142.2:c.1114G>C	XP_011516444.1:p.Val372Leu
XM_011518143.2:c.1108G>C	XP_011516445.1:p.Val370Leu
XM_011518145.2:c.967G>C	XP_011516447.1:p.Val323Leu
XM_017014205.2:c.226G>C	XP_016869694.1:p.Val76Leu
XM_024447380.1:c.226G>C	XP_024303148.1:p.Val76Leu
XM_024447381.1:c.532G>C	XP_024303149.1:p.Val178Leu
XM_024447382.1:c.226G>C	XP_024303150.1:p.Val76Leu
XR_001746160.2:n.1527G>C
XR_001746162.2:n.1593G>C
XR_001746164.1:n.1310G>C
XR_001746166.2:n.1744G>C
NM_001077365.2:c.1357G>C MANE Select	NP_001070833.1:p.Val453Leu
NM_001077366.2:c.1195G>C	NP_001070834.1:p.Val399Leu
NM_001136113.2:c.1357G>C	NP_001129585.1:p.Val453Leu
NM_001136114.2:c.1006G>C	NP_001129586.1:p.Val336Leu
NM_001353193.2:c.1423G>C	NP_001340122.2:p.Val475Leu
NM_001353194.2:c.1195G>C	NP_001340123.1:p.Val399Leu
NM_001353195.2:c.1006G>C	NP_001340124.1:p.Val336Leu
NM_001353196.2:c.1267G>C	NP_001340125.1:p.Val423Leu
NM_001353197.2:c.1261G>C	NP_001340126.2:p.Val421Leu
NM_001353198.2:c.1261G>C	NP_001340127.2:p.Val421Leu
NM_001353199.2:c.1072G>C	NP_001340128.2:p.Val358Leu
NM_001353200.2:c.901G>C	NP_001340129.1:p.Val301Leu
NM_001374689.1:c.1345G>C	NP_001361618.1:p.Val449Leu
NM_001374690.1:c.1357G>C	NP_001361619.1:p.Val453Leu
NM_001374691.1:c.1006G>C	NP_001361620.1:p.Val336Leu
NM_001374692.1:c.1006G>C	NP_001361621.1:p.Val336Leu
NM_001374693.1:c.1006G>C	NP_001361622.1:p.Val336Leu
NM_001374695.1:c.967G>C	NP_001361624.1:p.Val323Leu
NM_007171.4:c.1423G>C	NP_009102.4:p.Val475Leu
NR_148391.2:n.1391G>C
NR_148392.2:n.1609G>C
NR_148393.2:n.1391G>C
NR_148394.2:n.1284G>C
NR_148395.2:n.1543G>C
NR_148396.2:n.1177G>C
NR_148397.2:n.1441G>C
NR_148398.2:n.1396G>C
NR_148399.2:n.1783G>C
NR_148400.2:n.1382G>C