Canonical Allele Identifier: CA375315509

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398485A>C (hg19) ; chr9:g.131523098A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523098A>C , CM000671.2:g.131523098A>C	GRCh38
NC_000009.11:g.134398485A>C , CM000671.1:g.134398485A>C	GRCh37
NC_000009.10:g.133388306A>C	NCBI36
NG_008896.1:g.25197A>C
NG_008896.2:g.25197A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.2008A>C	ENSP00000343034.7:p.Lys670Gln
ENST00000404875.7:n.2710A>C
ENST00000423007.6:c.2227A>C	ENSP00000404119.2:p.Lys743Gln
ENST00000677295.2:c.*2514A>C	ENSP00000504346.2:n.*2514A>C
ENST00000678264.2:c.*2353A>C	ENSP00000503157.2:n.*2353A>C
ENST00000682070.1:n.2480A>C
ENST00000682639.1:c.167A>C
ENST00000682813.1:n.2567A>C
ENST00000683231.1:c.167A>C
ENST00000683392.1:n.4762A>C
ENST00000683712.1:n.2575A>C
ENST00000683900.1:n.4070A>C
ENST00000684062.1:n.2836A>C
ENST00000684399.1:c.167A>C
ENST00000684579.1:n.4016A>C
ENST00000341012.12:c.2008A>C	ENSP00000343034.7:p.Lys670Gln
ENST00000372220.5:c.1039A>C	ENSP00000361294.5:p.Lys347Gln
ENST00000372228.9:c.2236A>C	ENSP00000361302.3:p.Lys746Gln
ENST00000402686.8:c.2170A>C MANE Select	ENSP00000385797.4:p.Lys724Gln
ENST00000676640.1:c.2170A>C	ENSP00000503281.1:p.Lys724Gln
ENST00000676803.1:c.1231A>C	ENSP00000503093.1:p.Lys411Gln
ENST00000676835.1:c.*1385A>C	ENSP00000502911.1:n.*1385A>C
ENST00000677029.1:c.1714A>C	ENSP00000502936.1:p.Lys572Gln
ENST00000677099.1:c.*1880A>C	ENSP00000504553.1:n.*1880A>C
ENST00000677216.1:c.1819A>C	ENSP00000503772.1:p.Lys607Gln
ENST00000677295.1:c.*1392A>C	ENSP00000504346.1:n.*1392A>C
ENST00000677444.1:c.2115A>C
ENST00000677586.1:n.1537A>C
ENST00000677626.1:c.1819A>C	ENSP00000503552.1:p.Lys607Gln
ENST00000677853.1:c.*1178A>C	ENSP00000503488.1:n.*1178A>C
ENST00000678264.1:c.*1547A>C	ENSP00000503157.1:n.*1547A>C
ENST00000678303.1:c.2080A>C	ENSP00000503696.1:p.Lys694Gln
ENST00000678366.1:c.*2419A>C	ENSP00000504353.1:n.*2419A>C
ENST00000678546.1:c.*2115A>C	ENSP00000503062.1:n.*2115A>C
ENST00000678548.1:c.*2309A>C	ENSP00000503934.1:n.*2309A>C
ENST00000678626.1:n.2006A>C
ENST00000678739.1:c.*2336A>C	ENSP00000503806.1:n.*2336A>C
ENST00000678833.1:c.*1922A>C	ENSP00000503893.1:n.*1922A>C
ENST00000679023.1:c.2008A>C	ENSP00000503718.1:p.Lys670Gln
ENST00000679076.1:c.1789A>C
ENST00000679111.1:c.*926A>C	ENSP00000504257.1:n.*926A>C
ENST00000679189.1:c.1819A>C	ENSP00000503356.1:p.Lys607Gln
ENST00000341012.11:c.2008A>C	ENSP00000343034.7:p.Lys670Gln
ENST00000372220.4:c.1033A>C	ENSP00000361294.4:p.Lys345Gln
ENST00000372228.7:c.2236A>C	ENSP00000361302.3:p.Lys746Gln
ENST00000402686.7:c.2170A>C	ENSP00000385797.3:p.Lys724Gln
ENST00000404875.6:c.1819A>C	ENSP00000384531.2:p.Lys607Gln
ENST00000423007.5:c.2170A>C	ENSP00000404119.1:p.Lys724Gln
ENST00000485278.5:n.2720A>C
NM_001077365.1:c.2170A>C	NP_001070833.1:p.Lys724Gln
NM_001077366.1:c.2008A>C	NP_001070834.1:p.Lys670Gln
NM_001136113.1:c.2170A>C	NP_001129585.1:p.Lys724Gln
NM_001136114.1:c.1819A>C	NP_001129586.1:p.Lys607Gln
NM_007171.3:c.2236A>C	NP_009102.3:p.Lys746Gln
XM_005272156.1:c.2236A>C	XP_005272213.1:p.Lys746Gln
XM_005272158.1:c.2074A>C	XP_005272215.1:p.Lys692Gln
XM_005272159.1:c.1885A>C	XP_005272216.1:p.Lys629Gln
XM_005272162.1:c.1039A>C	XP_005272219.1:p.Lys347Gln
XM_006716932.1:c.1885A>C	XP_006716995.1:p.Lys629Gln
XM_011518140.1:c.2089A>C	XP_011516442.1:p.Lys697Gln
XM_011518141.1:c.2023A>C	XP_011516443.1:p.Lys675Gln
XM_011518142.1:c.1927A>C	XP_011516444.1:p.Lys643Gln
XM_011518143.1:c.1921A>C	XP_011516445.1:p.Lys641Gln
XM_011518145.1:c.1780A>C	XP_011516447.1:p.Lys594Gln
XM_011518147.1:c.1108A>C	XP_011516449.1:p.Lys370Gln
XR_929703.1:n.2412A>C
NM_001353193.1:c.2236A>C	NP_001340122.1:p.Lys746Gln
NM_001353194.1:c.2008A>C	NP_001340123.1:p.Lys670Gln
NM_001353195.1:c.1819A>C	NP_001340124.1:p.Lys607Gln
NM_001353196.1:c.2080A>C	NP_001340125.1:p.Lys694Gln
NM_001353197.1:c.2074A>C	NP_001340126.1:p.Lys692Gln
NM_001353198.1:c.2074A>C	NP_001340127.1:p.Lys692Gln
NM_001353199.1:c.1885A>C	NP_001340128.1:p.Lys629Gln
NM_001353200.1:c.1714A>C	NP_001340129.1:p.Lys572Gln
NR_148391.1:n.2220A>C
NR_148392.1:n.2438A>C
NR_148393.1:n.2359A>C
NR_148394.1:n.2113A>C
NR_148395.1:n.2511A>C
NR_148396.1:n.2145A>C
NR_148397.1:n.2270A>C
NR_148398.1:n.2225A>C
NR_148399.1:n.2751A>C
NR_148400.1:n.2350A>C
XM_005272162.3:c.1039A>C	XP_005272219.1:p.Lys347Gln
XM_006716932.2:c.1885A>C	XP_006716995.1:p.Lys629Gln
XM_011518140.2:c.2089A>C	XP_011516442.1:p.Lys697Gln
XM_011518141.2:c.2023A>C	XP_011516443.1:p.Lys675Gln
XM_011518142.2:c.1927A>C	XP_011516444.1:p.Lys643Gln
XM_011518143.2:c.1921A>C	XP_011516445.1:p.Lys641Gln
XM_011518145.2:c.1780A>C	XP_011516447.1:p.Lys594Gln
XM_017014205.2:c.1039A>C	XP_016869694.1:p.Lys347Gln
XM_024447380.1:c.1039A>C	XP_024303148.1:p.Lys347Gln
XM_024447381.1:c.1345A>C	XP_024303149.1:p.Lys449Gln
XM_024447382.1:c.1039A>C	XP_024303150.1:p.Lys347Gln
XR_001746160.2:n.2340A>C
XR_001746162.2:n.2545A>C
XR_001746164.1:n.2262A>C
XR_001746166.2:n.2557A>C
NM_001077365.2:c.2170A>C MANE Select	NP_001070833.1:p.Lys724Gln
NM_001077366.2:c.2008A>C	NP_001070834.1:p.Lys670Gln
NM_001136113.2:c.2170A>C	NP_001129585.1:p.Lys724Gln
NM_001136114.2:c.1819A>C	NP_001129586.1:p.Lys607Gln
NM_001353193.2:c.2236A>C	NP_001340122.2:p.Lys746Gln
NM_001353194.2:c.2008A>C	NP_001340123.1:p.Lys670Gln
NM_001353195.2:c.1819A>C	NP_001340124.1:p.Lys607Gln
NM_001353196.2:c.2080A>C	NP_001340125.1:p.Lys694Gln
NM_001353197.2:c.2074A>C	NP_001340126.2:p.Lys692Gln
NM_001353198.2:c.2074A>C	NP_001340127.2:p.Lys692Gln
NM_001353199.2:c.1885A>C	NP_001340128.2:p.Lys629Gln
NM_001353200.2:c.1714A>C	NP_001340129.1:p.Lys572Gln
NM_001374689.1:c.2158A>C	NP_001361618.1:p.Lys720Gln
NM_001374690.1:c.1951A>C	NP_001361619.1:p.Lys651Gln
NM_001374691.1:c.1819A>C	NP_001361620.1:p.Lys607Gln
NM_001374692.1:c.1819A>C	NP_001361621.1:p.Lys607Gln
NM_001374693.1:c.1819A>C	NP_001361622.1:p.Lys607Gln
NM_001374695.1:c.1780A>C	NP_001361624.1:p.Lys594Gln
NM_007171.4:c.2236A>C	NP_009102.4:p.Lys746Gln
NR_148391.2:n.2204A>C
NR_148392.2:n.2422A>C
NR_148393.2:n.2343A>C
NR_148394.2:n.2097A>C
NR_148395.2:n.2495A>C
NR_148396.2:n.2129A>C
NR_148397.2:n.2254A>C
NR_148398.2:n.2209A>C
NR_148399.2:n.2735A>C
NR_148400.2:n.2334A>C