Canonical Allele Identifier: CA467424094

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397567T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522180T>G , CM000671.2:g.131522180T>G	GRCh38
NC_000009.11:g.134397567T>G , CM000671.1:g.134397567T>G	GRCh37
NC_000009.10:g.133387388T>G	NCBI36
NG_008896.1:g.24279T>G
NG_008896.2:g.24279T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1797T>G	ENSP00000343034.7:p.Leu599=
ENST00000404875.7:n.2499T>G
ENST00000423007.6:c.2016T>G	ENSP00000404119.2:p.Leu672=
ENST00000677295.2:c.*2303T>G	ENSP00000504346.2:n.*2303T>G
ENST00000678264.2:c.*2142T>G	ENSP00000503157.2:n.*2142T>G
ENST00000682070.1:n.2291-22T>G
ENST00000682813.1:n.2363T>G
ENST00000683392.1:n.4573-22T>G
ENST00000683712.1:n.2364T>G
ENST00000683900.1:n.3859T>G
ENST00000684062.1:n.2625T>G
ENST00000684579.1:n.3805T>G
ENST00000684679.1:n.1186T>G
ENST00000341012.12:c.1797T>G	ENSP00000343034.7:p.Leu599=
ENST00000372220.5:c.828T>G	ENSP00000361294.5:p.Leu276=
ENST00000372228.9:c.2025T>G	ENSP00000361302.3:p.Leu675=
ENST00000402686.8:c.1959T>G MANE Select	ENSP00000385797.4:p.Leu653=
ENST00000676640.1:c.1959T>G	ENSP00000503281.1:p.Leu653=
ENST00000676803.1:c.1020T>G	ENSP00000503093.1:p.Leu340=
ENST00000676835.1:c.*1174T>G	ENSP00000502911.1:n.*1174T>G
ENST00000677029.1:c.1503T>G	ENSP00000502936.1:p.Leu501=
ENST00000677099.1:c.*1669T>G	ENSP00000504553.1:n.*1669T>G
ENST00000677216.1:c.1608T>G	ENSP00000503772.1:p.Leu536=
ENST00000677221.1:n.984T>G
ENST00000677295.1:c.*1203-22T>G	ENSP00000504346.1:n.*1203-22T>G
ENST00000677444.1:c.1904T>G
ENST00000677586.1:n.1326T>G
ENST00000677626.1:c.1608T>G	ENSP00000503552.1:p.Leu536=
ENST00000677853.1:c.*967T>G	ENSP00000503488.1:n.*967T>G
ENST00000678202.1:n.1118T>G
ENST00000678264.1:c.*1336T>G	ENSP00000503157.1:n.*1336T>G
ENST00000678303.1:c.1869T>G	ENSP00000503696.1:p.Leu623=
ENST00000678366.1:c.*2208T>G	ENSP00000504353.1:n.*2208T>G
ENST00000678546.1:c.*1904T>G	ENSP00000503062.1:n.*1904T>G
ENST00000678548.1:c.*2098T>G	ENSP00000503934.1:n.*2098T>G
ENST00000678626.1:n.1795T>G
ENST00000678739.1:c.*2147-22T>G	ENSP00000503806.1:n.*2147-22T>G
ENST00000678833.1:c.*1711T>G	ENSP00000503893.1:n.*1711T>G
ENST00000679023.1:c.1797T>G	ENSP00000503718.1:p.Leu599=
ENST00000679076.1:c.1578T>G
ENST00000679111.1:c.*715T>G	ENSP00000504257.1:n.*715T>G
ENST00000679189.1:c.1608T>G	ENSP00000503356.1:p.Leu536=
ENST00000341012.11:c.1797T>G	ENSP00000343034.7:p.Leu599=
ENST00000372220.4:c.822T>G	ENSP00000361294.4:p.Leu274=
ENST00000372228.7:c.2025T>G	ENSP00000361302.3:p.Leu675=
ENST00000402686.7:c.1959T>G	ENSP00000385797.3:p.Leu653=
ENST00000404875.6:c.1608T>G	ENSP00000384531.2:p.Leu536=
ENST00000423007.5:c.1959T>G	ENSP00000404119.1:p.Leu653=
ENST00000485278.5:n.2509T>G
ENST00000494883.1:n.502T>G
NM_001077365.1:c.1959T>G	NP_001070833.1:p.Leu653=
NM_001077366.1:c.1797T>G	NP_001070834.1:p.Leu599=
NM_001136113.1:c.1959T>G	NP_001129585.1:p.Leu653=
NM_001136114.1:c.1608T>G	NP_001129586.1:p.Leu536=
NM_007171.3:c.2025T>G	NP_009102.3:p.Leu675=
XM_005272156.1:c.2025T>G	XP_005272213.1:p.Leu675=
XM_005272158.1:c.1863T>G	XP_005272215.1:p.Leu621=
XM_005272159.1:c.1674T>G	XP_005272216.1:p.Leu558=
XM_005272162.1:c.828T>G	XP_005272219.1:p.Leu276=
XM_006716932.1:c.1674T>G	XP_006716995.1:p.Leu558=
XM_011518140.1:c.1878T>G	XP_011516442.1:p.Leu626=
XM_011518141.1:c.1812T>G	XP_011516443.1:p.Leu604=
XM_011518142.1:c.1716T>G	XP_011516444.1:p.Leu572=
XM_011518143.1:c.1710T>G	XP_011516445.1:p.Leu570=
XM_011518145.1:c.1569T>G	XP_011516447.1:p.Leu523=
XM_011518147.1:c.897T>G	XP_011516449.1:p.Leu299=
XR_929703.1:n.2201T>G
NM_001353193.1:c.2025T>G	NP_001340122.1:p.Leu675=
NM_001353194.1:c.1797T>G	NP_001340123.1:p.Leu599=
NM_001353195.1:c.1608T>G	NP_001340124.1:p.Leu536=
NM_001353196.1:c.1869T>G	NP_001340125.1:p.Leu623=
NM_001353197.1:c.1863T>G	NP_001340126.1:p.Leu621=
NM_001353198.1:c.1863T>G	NP_001340127.1:p.Leu621=
NM_001353199.1:c.1674T>G	NP_001340128.1:p.Leu558=
NM_001353200.1:c.1503T>G	NP_001340129.1:p.Leu501=
NR_148391.1:n.2009T>G
NR_148392.1:n.2227T>G
NR_148393.1:n.2148T>G
NR_148394.1:n.1902T>G
NR_148395.1:n.2300T>G
NR_148396.1:n.1934T>G
NR_148397.1:n.2059T>G
NR_148398.1:n.2014T>G
NR_148399.1:n.2540T>G
NR_148400.1:n.2139T>G
XM_005272162.3:c.828T>G	XP_005272219.1:p.Leu276=
XM_006716932.2:c.1674T>G	XP_006716995.1:p.Leu558=
XM_011518140.2:c.1878T>G	XP_011516442.1:p.Leu626=
XM_011518141.2:c.1812T>G	XP_011516443.1:p.Leu604=
XM_011518142.2:c.1716T>G	XP_011516444.1:p.Leu572=
XM_011518143.2:c.1710T>G	XP_011516445.1:p.Leu570=
XM_011518145.2:c.1569T>G	XP_011516447.1:p.Leu523=
XM_017014205.2:c.828T>G	XP_016869694.1:p.Leu276=
XM_024447380.1:c.828T>G	XP_024303148.1:p.Leu276=
XM_024447381.1:c.1134T>G	XP_024303149.1:p.Leu378=
XM_024447382.1:c.828T>G	XP_024303150.1:p.Leu276=
XR_001746160.2:n.2129T>G
XR_001746162.2:n.2334T>G
XR_001746164.1:n.2051T>G
XR_001746166.2:n.2346T>G
NM_001077365.2:c.1959T>G MANE Select	NP_001070833.1:p.Leu653=
NM_001077366.2:c.1797T>G	NP_001070834.1:p.Leu599=
NM_001136113.2:c.1959T>G	NP_001129585.1:p.Leu653=
NM_001136114.2:c.1608T>G	NP_001129586.1:p.Leu536=
NM_001353193.2:c.2025T>G	NP_001340122.2:p.Leu675=
NM_001353194.2:c.1797T>G	NP_001340123.1:p.Leu599=
NM_001353195.2:c.1608T>G	NP_001340124.1:p.Leu536=
NM_001353196.2:c.1869T>G	NP_001340125.1:p.Leu623=
NM_001353197.2:c.1863T>G	NP_001340126.2:p.Leu621=
NM_001353198.2:c.1863T>G	NP_001340127.2:p.Leu621=
NM_001353199.2:c.1674T>G	NP_001340128.2:p.Leu558=
NM_001353200.2:c.1503T>G	NP_001340129.1:p.Leu501=
NM_001374689.1:c.1947T>G	NP_001361618.1:p.Leu649=
NM_001374690.1:c.1740T>G	NP_001361619.1:p.Leu580=
NM_001374691.1:c.1608T>G	NP_001361620.1:p.Leu536=
NM_001374692.1:c.1608T>G	NP_001361621.1:p.Leu536=
NM_001374693.1:c.1608T>G	NP_001361622.1:p.Leu536=
NM_001374695.1:c.1569T>G	NP_001361624.1:p.Leu523=
NM_007171.4:c.2025T>G	NP_009102.4:p.Leu675=
NR_148391.2:n.1993T>G
NR_148392.2:n.2211T>G
NR_148393.2:n.2132T>G
NR_148394.2:n.1886T>G
NR_148395.2:n.2284T>G
NR_148396.2:n.1918T>G
NR_148397.2:n.2043T>G
NR_148398.2:n.1998T>G
NR_148399.2:n.2524T>G
NR_148400.2:n.2123T>G