Canonical Allele Identifier: CA375315510
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.2008A>T ENSP00000343034.7:p.Lys670Ter
ENST00000404875.7:n.2710A>T
ENST00000423007.6:c.2227A>T ENSP00000404119.2:p.Lys743Ter
ENST00000677295.2:c.*2514A>T ENSP00000504346.2:n.*2514A>T
ENST00000678264.2:c.*2353A>T ENSP00000503157.2:n.*2353A>T
ENST00000682070.1:n.2480A>T
ENST00000682639.1:c.167A>T
ENST00000682813.1:n.2567A>T
ENST00000683231.1:c.167A>T
ENST00000683392.1:n.4762A>T
ENST00000683712.1:n.2575A>T
ENST00000683900.1:n.4070A>T
ENST00000684062.1:n.2836A>T
ENST00000684399.1:c.167A>T
ENST00000684579.1:n.4016A>T
ENST00000341012.12:c.2008A>T ENSP00000343034.7:p.Lys670Ter
ENST00000372220.5:c.1039A>T ENSP00000361294.5:p.Lys347Ter
ENST00000372228.9:c.2236A>T ENSP00000361302.3:p.Lys746Ter
ENST00000402686.8:c.2170A>T MANE Select ENSP00000385797.4:p.Lys724Ter
ENST00000676640.1:c.2170A>T ENSP00000503281.1:p.Lys724Ter
ENST00000676803.1:c.1231A>T ENSP00000503093.1:p.Lys411Ter
ENST00000676835.1:c.*1385A>T ENSP00000502911.1:n.*1385A>T
ENST00000677029.1:c.1714A>T ENSP00000502936.1:p.Lys572Ter
ENST00000677099.1:c.*1880A>T ENSP00000504553.1:n.*1880A>T
ENST00000677216.1:c.1819A>T ENSP00000503772.1:p.Lys607Ter
ENST00000677295.1:c.*1392A>T ENSP00000504346.1:n.*1392A>T
ENST00000677444.1:c.2115A>T
ENST00000677586.1:n.1537A>T
ENST00000677626.1:c.1819A>T ENSP00000503552.1:p.Lys607Ter
ENST00000677853.1:c.*1178A>T ENSP00000503488.1:n.*1178A>T
ENST00000678264.1:c.*1547A>T ENSP00000503157.1:n.*1547A>T
ENST00000678303.1:c.2080A>T ENSP00000503696.1:p.Lys694Ter
ENST00000678366.1:c.*2419A>T ENSP00000504353.1:n.*2419A>T
ENST00000678546.1:c.*2115A>T ENSP00000503062.1:n.*2115A>T
ENST00000678548.1:c.*2309A>T ENSP00000503934.1:n.*2309A>T
ENST00000678626.1:n.2006A>T
ENST00000678739.1:c.*2336A>T ENSP00000503806.1:n.*2336A>T
ENST00000678833.1:c.*1922A>T ENSP00000503893.1:n.*1922A>T
ENST00000679023.1:c.2008A>T ENSP00000503718.1:p.Lys670Ter
ENST00000679076.1:c.1789A>T
ENST00000679111.1:c.*926A>T ENSP00000504257.1:n.*926A>T
ENST00000679189.1:c.1819A>T ENSP00000503356.1:p.Lys607Ter
ENST00000341012.11:c.2008A>T ENSP00000343034.7:p.Lys670Ter
ENST00000372220.4:c.1033A>T ENSP00000361294.4:p.Lys345Ter
ENST00000372228.7:c.2236A>T ENSP00000361302.3:p.Lys746Ter
ENST00000402686.7:c.2170A>T ENSP00000385797.3:p.Lys724Ter
ENST00000404875.6:c.1819A>T ENSP00000384531.2:p.Lys607Ter
ENST00000423007.5:c.2170A>T ENSP00000404119.1:p.Lys724Ter
ENST00000485278.5:n.2720A>T
NM_001077365.1:c.2170A>T NP_001070833.1:p.Lys724Ter
NM_001077366.1:c.2008A>T NP_001070834.1:p.Lys670Ter
NM_001136113.1:c.2170A>T NP_001129585.1:p.Lys724Ter
NM_001136114.1:c.1819A>T NP_001129586.1:p.Lys607Ter
NM_007171.3:c.2236A>T NP_009102.3:p.Lys746Ter
XM_005272156.1:c.2236A>T XP_005272213.1:p.Lys746Ter
XM_005272158.1:c.2074A>T XP_005272215.1:p.Lys692Ter
XM_005272159.1:c.1885A>T XP_005272216.1:p.Lys629Ter
XM_005272162.1:c.1039A>T XP_005272219.1:p.Lys347Ter
XM_006716932.1:c.1885A>T XP_006716995.1:p.Lys629Ter
XM_011518140.1:c.2089A>T XP_011516442.1:p.Lys697Ter
XM_011518141.1:c.2023A>T XP_011516443.1:p.Lys675Ter
XM_011518142.1:c.1927A>T XP_011516444.1:p.Lys643Ter
XM_011518143.1:c.1921A>T XP_011516445.1:p.Lys641Ter
XM_011518145.1:c.1780A>T XP_011516447.1:p.Lys594Ter
XM_011518147.1:c.1108A>T XP_011516449.1:p.Lys370Ter
XR_929703.1:n.2412A>T
NM_001353193.1:c.2236A>T NP_001340122.1:p.Lys746Ter
NM_001353194.1:c.2008A>T NP_001340123.1:p.Lys670Ter
NM_001353195.1:c.1819A>T NP_001340124.1:p.Lys607Ter
NM_001353196.1:c.2080A>T NP_001340125.1:p.Lys694Ter
NM_001353197.1:c.2074A>T NP_001340126.1:p.Lys692Ter
NM_001353198.1:c.2074A>T NP_001340127.1:p.Lys692Ter
NM_001353199.1:c.1885A>T NP_001340128.1:p.Lys629Ter
NM_001353200.1:c.1714A>T NP_001340129.1:p.Lys572Ter
NR_148391.1:n.2220A>T
NR_148392.1:n.2438A>T
NR_148393.1:n.2359A>T
NR_148394.1:n.2113A>T
NR_148395.1:n.2511A>T
NR_148396.1:n.2145A>T
NR_148397.1:n.2270A>T
NR_148398.1:n.2225A>T
NR_148399.1:n.2751A>T
NR_148400.1:n.2350A>T
XM_005272162.3:c.1039A>T XP_005272219.1:p.Lys347Ter
XM_006716932.2:c.1885A>T XP_006716995.1:p.Lys629Ter
XM_011518140.2:c.2089A>T XP_011516442.1:p.Lys697Ter
XM_011518141.2:c.2023A>T XP_011516443.1:p.Lys675Ter
XM_011518142.2:c.1927A>T XP_011516444.1:p.Lys643Ter
XM_011518143.2:c.1921A>T XP_011516445.1:p.Lys641Ter
XM_011518145.2:c.1780A>T XP_011516447.1:p.Lys594Ter
XM_017014205.2:c.1039A>T XP_016869694.1:p.Lys347Ter
XM_024447380.1:c.1039A>T XP_024303148.1:p.Lys347Ter
XM_024447381.1:c.1345A>T XP_024303149.1:p.Lys449Ter
XM_024447382.1:c.1039A>T XP_024303150.1:p.Lys347Ter
XR_001746160.2:n.2340A>T
XR_001746162.2:n.2545A>T
XR_001746164.1:n.2262A>T
XR_001746166.2:n.2557A>T
NM_001077365.2:c.2170A>T MANE Select NP_001070833.1:p.Lys724Ter
NM_001077366.2:c.2008A>T NP_001070834.1:p.Lys670Ter
NM_001136113.2:c.2170A>T NP_001129585.1:p.Lys724Ter
NM_001136114.2:c.1819A>T NP_001129586.1:p.Lys607Ter
NM_001353193.2:c.2236A>T NP_001340122.2:p.Lys746Ter
NM_001353194.2:c.2008A>T NP_001340123.1:p.Lys670Ter
NM_001353195.2:c.1819A>T NP_001340124.1:p.Lys607Ter
NM_001353196.2:c.2080A>T NP_001340125.1:p.Lys694Ter
NM_001353197.2:c.2074A>T NP_001340126.2:p.Lys692Ter
NM_001353198.2:c.2074A>T NP_001340127.2:p.Lys692Ter
NM_001353199.2:c.1885A>T NP_001340128.2:p.Lys629Ter
NM_001353200.2:c.1714A>T NP_001340129.1:p.Lys572Ter
NM_001374689.1:c.2158A>T NP_001361618.1:p.Lys720Ter
NM_001374690.1:c.1951A>T NP_001361619.1:p.Lys651Ter
NM_001374691.1:c.1819A>T NP_001361620.1:p.Lys607Ter
NM_001374692.1:c.1819A>T NP_001361621.1:p.Lys607Ter
NM_001374693.1:c.1819A>T NP_001361622.1:p.Lys607Ter
NM_001374695.1:c.1780A>T NP_001361624.1:p.Lys594Ter
NM_007171.4:c.2236A>T NP_009102.4:p.Lys746Ter
NR_148391.2:n.2204A>T
NR_148392.2:n.2422A>T
NR_148393.2:n.2343A>T
NR_148394.2:n.2097A>T
NR_148395.2:n.2495A>T
NR_148396.2:n.2129A>T
NR_148397.2:n.2254A>T
NR_148398.2:n.2209A>T
NR_148399.2:n.2735A>T
NR_148400.2:n.2334A>T