Canonical Allele Identifier: CA375314609
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131522179T>G , CM000671.2:g.131522179T>G GRCh38
NC_000009.11:g.134397566T>G , CM000671.1:g.134397566T>G GRCh37
NC_000009.10:g.133387387T>G NCBI36
NG_008896.1:g.24278T>G
NG_008896.2:g.24278T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1796T>G ENSP00000343034.7:p.Leu599Arg
ENST00000404875.7:n.2498T>G
ENST00000423007.6:c.2015T>G ENSP00000404119.2:p.Leu672Arg
ENST00000677295.2:c.*2302T>G ENSP00000504346.2:n.*2302T>G
ENST00000678264.2:c.*2141T>G ENSP00000503157.2:n.*2141T>G
ENST00000682070.1:n.2291-23T>G
ENST00000682813.1:n.2362T>G
ENST00000683392.1:n.4573-23T>G
ENST00000683712.1:n.2363T>G
ENST00000683900.1:n.3858T>G
ENST00000684062.1:n.2624T>G
ENST00000684579.1:n.3804T>G
ENST00000684679.1:n.1185T>G
ENST00000341012.12:c.1796T>G ENSP00000343034.7:p.Leu599Arg
ENST00000372220.5:c.827T>G ENSP00000361294.5:p.Leu276Arg
ENST00000372228.9:c.2024T>G ENSP00000361302.3:p.Leu675Arg
ENST00000402686.8:c.1958T>G MANE Select ENSP00000385797.4:p.Leu653Arg
ENST00000676640.1:c.1958T>G ENSP00000503281.1:p.Leu653Arg
ENST00000676803.1:c.1019T>G ENSP00000503093.1:p.Leu340Arg
ENST00000676835.1:c.*1173T>G ENSP00000502911.1:n.*1173T>G
ENST00000677029.1:c.1502T>G ENSP00000502936.1:p.Leu501Arg
ENST00000677099.1:c.*1668T>G ENSP00000504553.1:n.*1668T>G
ENST00000677216.1:c.1607T>G ENSP00000503772.1:p.Leu536Arg
ENST00000677221.1:n.983T>G
ENST00000677295.1:c.*1203-23T>G ENSP00000504346.1:n.*1203-23T>G
ENST00000677444.1:c.1903T>G
ENST00000677586.1:n.1325T>G
ENST00000677626.1:c.1607T>G ENSP00000503552.1:p.Leu536Arg
ENST00000677853.1:c.*966T>G ENSP00000503488.1:n.*966T>G
ENST00000678202.1:n.1117T>G
ENST00000678264.1:c.*1335T>G ENSP00000503157.1:n.*1335T>G
ENST00000678303.1:c.1868T>G ENSP00000503696.1:p.Leu623Arg
ENST00000678366.1:c.*2207T>G ENSP00000504353.1:n.*2207T>G
ENST00000678546.1:c.*1903T>G ENSP00000503062.1:n.*1903T>G
ENST00000678548.1:c.*2097T>G ENSP00000503934.1:n.*2097T>G
ENST00000678626.1:n.1794T>G
ENST00000678739.1:c.*2147-23T>G ENSP00000503806.1:n.*2147-23T>G
ENST00000678833.1:c.*1710T>G ENSP00000503893.1:n.*1710T>G
ENST00000679023.1:c.1796T>G ENSP00000503718.1:p.Leu599Arg
ENST00000679076.1:c.1577T>G
ENST00000679111.1:c.*714T>G ENSP00000504257.1:n.*714T>G
ENST00000679189.1:c.1607T>G ENSP00000503356.1:p.Leu536Arg
ENST00000341012.11:c.1796T>G ENSP00000343034.7:p.Leu599Arg
ENST00000372220.4:c.821T>G ENSP00000361294.4:p.Leu274Arg
ENST00000372228.7:c.2024T>G ENSP00000361302.3:p.Leu675Arg
ENST00000402686.7:c.1958T>G ENSP00000385797.3:p.Leu653Arg
ENST00000404875.6:c.1607T>G ENSP00000384531.2:p.Leu536Arg
ENST00000423007.5:c.1958T>G ENSP00000404119.1:p.Leu653Arg
ENST00000485278.5:n.2508T>G
ENST00000494883.1:n.501T>G
NM_001077365.1:c.1958T>G NP_001070833.1:p.Leu653Arg
NM_001077366.1:c.1796T>G NP_001070834.1:p.Leu599Arg
NM_001136113.1:c.1958T>G NP_001129585.1:p.Leu653Arg
NM_001136114.1:c.1607T>G NP_001129586.1:p.Leu536Arg
NM_007171.3:c.2024T>G NP_009102.3:p.Leu675Arg
XM_005272156.1:c.2024T>G XP_005272213.1:p.Leu675Arg
XM_005272158.1:c.1862T>G XP_005272215.1:p.Leu621Arg
XM_005272159.1:c.1673T>G XP_005272216.1:p.Leu558Arg
XM_005272162.1:c.827T>G XP_005272219.1:p.Leu276Arg
XM_006716932.1:c.1673T>G XP_006716995.1:p.Leu558Arg
XM_011518140.1:c.1877T>G XP_011516442.1:p.Leu626Arg
XM_011518141.1:c.1811T>G XP_011516443.1:p.Leu604Arg
XM_011518142.1:c.1715T>G XP_011516444.1:p.Leu572Arg
XM_011518143.1:c.1709T>G XP_011516445.1:p.Leu570Arg
XM_011518145.1:c.1568T>G XP_011516447.1:p.Leu523Arg
XM_011518147.1:c.896T>G XP_011516449.1:p.Leu299Arg
XR_929703.1:n.2200T>G
NM_001353193.1:c.2024T>G NP_001340122.1:p.Leu675Arg
NM_001353194.1:c.1796T>G NP_001340123.1:p.Leu599Arg
NM_001353195.1:c.1607T>G NP_001340124.1:p.Leu536Arg
NM_001353196.1:c.1868T>G NP_001340125.1:p.Leu623Arg
NM_001353197.1:c.1862T>G NP_001340126.1:p.Leu621Arg
NM_001353198.1:c.1862T>G NP_001340127.1:p.Leu621Arg
NM_001353199.1:c.1673T>G NP_001340128.1:p.Leu558Arg
NM_001353200.1:c.1502T>G NP_001340129.1:p.Leu501Arg
NR_148391.1:n.2008T>G
NR_148392.1:n.2226T>G
NR_148393.1:n.2147T>G
NR_148394.1:n.1901T>G
NR_148395.1:n.2299T>G
NR_148396.1:n.1933T>G
NR_148397.1:n.2058T>G
NR_148398.1:n.2013T>G
NR_148399.1:n.2539T>G
NR_148400.1:n.2138T>G
XM_005272162.3:c.827T>G XP_005272219.1:p.Leu276Arg
XM_006716932.2:c.1673T>G XP_006716995.1:p.Leu558Arg
XM_011518140.2:c.1877T>G XP_011516442.1:p.Leu626Arg
XM_011518141.2:c.1811T>G XP_011516443.1:p.Leu604Arg
XM_011518142.2:c.1715T>G XP_011516444.1:p.Leu572Arg
XM_011518143.2:c.1709T>G XP_011516445.1:p.Leu570Arg
XM_011518145.2:c.1568T>G XP_011516447.1:p.Leu523Arg
XM_017014205.2:c.827T>G XP_016869694.1:p.Leu276Arg
XM_024447380.1:c.827T>G XP_024303148.1:p.Leu276Arg
XM_024447381.1:c.1133T>G XP_024303149.1:p.Leu378Arg
XM_024447382.1:c.827T>G XP_024303150.1:p.Leu276Arg
XR_001746160.2:n.2128T>G
XR_001746162.2:n.2333T>G
XR_001746164.1:n.2050T>G
XR_001746166.2:n.2345T>G
NM_001077365.2:c.1958T>G MANE Select NP_001070833.1:p.Leu653Arg
NM_001077366.2:c.1796T>G NP_001070834.1:p.Leu599Arg
NM_001136113.2:c.1958T>G NP_001129585.1:p.Leu653Arg
NM_001136114.2:c.1607T>G NP_001129586.1:p.Leu536Arg
NM_001353193.2:c.2024T>G NP_001340122.2:p.Leu675Arg
NM_001353194.2:c.1796T>G NP_001340123.1:p.Leu599Arg
NM_001353195.2:c.1607T>G NP_001340124.1:p.Leu536Arg
NM_001353196.2:c.1868T>G NP_001340125.1:p.Leu623Arg
NM_001353197.2:c.1862T>G NP_001340126.2:p.Leu621Arg
NM_001353198.2:c.1862T>G NP_001340127.2:p.Leu621Arg
NM_001353199.2:c.1673T>G NP_001340128.2:p.Leu558Arg
NM_001353200.2:c.1502T>G NP_001340129.1:p.Leu501Arg
NM_001374689.1:c.1946T>G NP_001361618.1:p.Leu649Arg
NM_001374690.1:c.1739T>G NP_001361619.1:p.Leu580Arg
NM_001374691.1:c.1607T>G NP_001361620.1:p.Leu536Arg
NM_001374692.1:c.1607T>G NP_001361621.1:p.Leu536Arg
NM_001374693.1:c.1607T>G NP_001361622.1:p.Leu536Arg
NM_001374695.1:c.1568T>G NP_001361624.1:p.Leu523Arg
NM_007171.4:c.2024T>G NP_009102.4:p.Leu675Arg
NR_148391.2:n.1992T>G
NR_148392.2:n.2210T>G
NR_148393.2:n.2131T>G
NR_148394.2:n.1885T>G
NR_148395.2:n.2283T>G
NR_148396.2:n.1917T>G
NR_148397.2:n.2042T>G
NR_148398.2:n.1997T>G
NR_148399.2:n.2523T>G
NR_148400.2:n.2122T>G