Canonical Allele Identifier: CA375315228

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398410T>G (hg19) ; chr9:g.131523023T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523023T>G , CM000671.2:g.131523023T>G	GRCh38
NC_000009.11:g.134398410T>G , CM000671.1:g.134398410T>G	GRCh37
NC_000009.10:g.133388231T>G	NCBI36
NG_008896.1:g.25122T>G
NG_008896.2:g.25122T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1933T>G	ENSP00000343034.7:p.Tyr645Asp
ENST00000404875.7:n.2635T>G
ENST00000423007.6:c.2152T>G	ENSP00000404119.2:p.Tyr718Asp
ENST00000677295.2:c.*2439T>G	ENSP00000504346.2:n.*2439T>G
ENST00000678264.2:c.*2278T>G	ENSP00000503157.2:n.*2278T>G
ENST00000682070.1:n.2405T>G
ENST00000682639.1:c.92T>G
ENST00000682813.1:n.2492T>G
ENST00000683231.1:c.92T>G
ENST00000683392.1:n.4687T>G
ENST00000683712.1:n.2500T>G
ENST00000683900.1:n.3995T>G
ENST00000684062.1:n.2761T>G
ENST00000684399.1:c.92T>G
ENST00000684579.1:n.3941T>G
ENST00000341012.12:c.1933T>G	ENSP00000343034.7:p.Tyr645Asp
ENST00000372220.5:c.964T>G	ENSP00000361294.5:p.Tyr322Asp
ENST00000372228.9:c.2161T>G	ENSP00000361302.3:p.Tyr721Asp
ENST00000402686.8:c.2095T>G MANE Select	ENSP00000385797.4:p.Tyr699Asp
ENST00000676640.1:c.2095T>G	ENSP00000503281.1:p.Tyr699Asp
ENST00000676803.1:c.1156T>G	ENSP00000503093.1:p.Tyr386Asp
ENST00000676835.1:c.*1310T>G	ENSP00000502911.1:n.*1310T>G
ENST00000677029.1:c.1639T>G	ENSP00000502936.1:p.Tyr547Asp
ENST00000677099.1:c.*1805T>G	ENSP00000504553.1:n.*1805T>G
ENST00000677216.1:c.1744T>G	ENSP00000503772.1:p.Tyr582Asp
ENST00000677295.1:c.*1317T>G	ENSP00000504346.1:n.*1317T>G
ENST00000677444.1:c.2040T>G
ENST00000677586.1:n.1462T>G
ENST00000677626.1:c.1744T>G	ENSP00000503552.1:p.Tyr582Asp
ENST00000677853.1:c.*1103T>G	ENSP00000503488.1:n.*1103T>G
ENST00000678264.1:c.*1472T>G	ENSP00000503157.1:n.*1472T>G
ENST00000678303.1:c.2005T>G	ENSP00000503696.1:p.Tyr669Asp
ENST00000678366.1:c.*2344T>G	ENSP00000504353.1:n.*2344T>G
ENST00000678546.1:c.*2040T>G	ENSP00000503062.1:n.*2040T>G
ENST00000678548.1:c.*2234T>G	ENSP00000503934.1:n.*2234T>G
ENST00000678626.1:n.1931T>G
ENST00000678739.1:c.*2261T>G	ENSP00000503806.1:n.*2261T>G
ENST00000678833.1:c.*1847T>G	ENSP00000503893.1:n.*1847T>G
ENST00000679023.1:c.1933T>G	ENSP00000503718.1:p.Tyr645Asp
ENST00000679076.1:c.1714T>G
ENST00000679111.1:c.*851T>G	ENSP00000504257.1:n.*851T>G
ENST00000679189.1:c.1744T>G	ENSP00000503356.1:p.Tyr582Asp
ENST00000341012.11:c.1933T>G	ENSP00000343034.7:p.Tyr645Asp
ENST00000372220.4:c.958T>G	ENSP00000361294.4:p.Tyr320Asp
ENST00000372228.7:c.2161T>G	ENSP00000361302.3:p.Tyr721Asp
ENST00000402686.7:c.2095T>G	ENSP00000385797.3:p.Tyr699Asp
ENST00000404875.6:c.1744T>G	ENSP00000384531.2:p.Tyr582Asp
ENST00000423007.5:c.2095T>G	ENSP00000404119.1:p.Tyr699Asp
ENST00000485278.5:n.2645T>G
NM_001077365.1:c.2095T>G	NP_001070833.1:p.Tyr699Asp
NM_001077366.1:c.1933T>G	NP_001070834.1:p.Tyr645Asp
NM_001136113.1:c.2095T>G	NP_001129585.1:p.Tyr699Asp
NM_001136114.1:c.1744T>G	NP_001129586.1:p.Tyr582Asp
NM_007171.3:c.2161T>G	NP_009102.3:p.Tyr721Asp
XM_005272156.1:c.2161T>G	XP_005272213.1:p.Tyr721Asp
XM_005272158.1:c.1999T>G	XP_005272215.1:p.Tyr667Asp
XM_005272159.1:c.1810T>G	XP_005272216.1:p.Tyr604Asp
XM_005272162.1:c.964T>G	XP_005272219.1:p.Tyr322Asp
XM_006716932.1:c.1810T>G	XP_006716995.1:p.Tyr604Asp
XM_011518140.1:c.2014T>G	XP_011516442.1:p.Tyr672Asp
XM_011518141.1:c.1948T>G	XP_011516443.1:p.Tyr650Asp
XM_011518142.1:c.1852T>G	XP_011516444.1:p.Tyr618Asp
XM_011518143.1:c.1846T>G	XP_011516445.1:p.Tyr616Asp
XM_011518145.1:c.1705T>G	XP_011516447.1:p.Tyr569Asp
XM_011518147.1:c.1033T>G	XP_011516449.1:p.Tyr345Asp
XR_929703.1:n.2337T>G
NM_001353193.1:c.2161T>G	NP_001340122.1:p.Tyr721Asp
NM_001353194.1:c.1933T>G	NP_001340123.1:p.Tyr645Asp
NM_001353195.1:c.1744T>G	NP_001340124.1:p.Tyr582Asp
NM_001353196.1:c.2005T>G	NP_001340125.1:p.Tyr669Asp
NM_001353197.1:c.1999T>G	NP_001340126.1:p.Tyr667Asp
NM_001353198.1:c.1999T>G	NP_001340127.1:p.Tyr667Asp
NM_001353199.1:c.1810T>G	NP_001340128.1:p.Tyr604Asp
NM_001353200.1:c.1639T>G	NP_001340129.1:p.Tyr547Asp
NR_148391.1:n.2145T>G
NR_148392.1:n.2363T>G
NR_148393.1:n.2284T>G
NR_148394.1:n.2038T>G
NR_148395.1:n.2436T>G
NR_148396.1:n.2070T>G
NR_148397.1:n.2195T>G
NR_148398.1:n.2150T>G
NR_148399.1:n.2676T>G
NR_148400.1:n.2275T>G
XM_005272162.3:c.964T>G	XP_005272219.1:p.Tyr322Asp
XM_006716932.2:c.1810T>G	XP_006716995.1:p.Tyr604Asp
XM_011518140.2:c.2014T>G	XP_011516442.1:p.Tyr672Asp
XM_011518141.2:c.1948T>G	XP_011516443.1:p.Tyr650Asp
XM_011518142.2:c.1852T>G	XP_011516444.1:p.Tyr618Asp
XM_011518143.2:c.1846T>G	XP_011516445.1:p.Tyr616Asp
XM_011518145.2:c.1705T>G	XP_011516447.1:p.Tyr569Asp
XM_017014205.2:c.964T>G	XP_016869694.1:p.Tyr322Asp
XM_024447380.1:c.964T>G	XP_024303148.1:p.Tyr322Asp
XM_024447381.1:c.1270T>G	XP_024303149.1:p.Tyr424Asp
XM_024447382.1:c.964T>G	XP_024303150.1:p.Tyr322Asp
XR_001746160.2:n.2265T>G
XR_001746162.2:n.2470T>G
XR_001746164.1:n.2187T>G
XR_001746166.2:n.2482T>G
NM_001077365.2:c.2095T>G MANE Select	NP_001070833.1:p.Tyr699Asp
NM_001077366.2:c.1933T>G	NP_001070834.1:p.Tyr645Asp
NM_001136113.2:c.2095T>G	NP_001129585.1:p.Tyr699Asp
NM_001136114.2:c.1744T>G	NP_001129586.1:p.Tyr582Asp
NM_001353193.2:c.2161T>G	NP_001340122.2:p.Tyr721Asp
NM_001353194.2:c.1933T>G	NP_001340123.1:p.Tyr645Asp
NM_001353195.2:c.1744T>G	NP_001340124.1:p.Tyr582Asp
NM_001353196.2:c.2005T>G	NP_001340125.1:p.Tyr669Asp
NM_001353197.2:c.1999T>G	NP_001340126.2:p.Tyr667Asp
NM_001353198.2:c.1999T>G	NP_001340127.2:p.Tyr667Asp
NM_001353199.2:c.1810T>G	NP_001340128.2:p.Tyr604Asp
NM_001353200.2:c.1639T>G	NP_001340129.1:p.Tyr547Asp
NM_001374689.1:c.2083T>G	NP_001361618.1:p.Tyr695Asp
NM_001374690.1:c.1876T>G	NP_001361619.1:p.Tyr626Asp
NM_001374691.1:c.1744T>G	NP_001361620.1:p.Tyr582Asp
NM_001374692.1:c.1744T>G	NP_001361621.1:p.Tyr582Asp
NM_001374693.1:c.1744T>G	NP_001361622.1:p.Tyr582Asp
NM_001374695.1:c.1705T>G	NP_001361624.1:p.Tyr569Asp
NM_007171.4:c.2161T>G	NP_009102.4:p.Tyr721Asp
NR_148391.2:n.2129T>G
NR_148392.2:n.2347T>G
NR_148393.2:n.2268T>G
NR_148394.2:n.2022T>G
NR_148395.2:n.2420T>G
NR_148396.2:n.2054T>G
NR_148397.2:n.2179T>G
NR_148398.2:n.2134T>G
NR_148399.2:n.2660T>G
NR_148400.2:n.2259T>G