Canonical Allele Identifier: CA392522261

Gene: MYO5A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.52379723G>A , CM000677.2:g.52379723G>A	GRCh38
NC_000015.9:g.52671920G>A , CM000677.1:g.52671920G>A	GRCh37
NC_000015.8:g.50459212G>A	NCBI36
NG_009887.1:g.154328C>T , LRG_86:g.154328C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001382347.1:c.2110C>T MANE Select	NP_001369276.1:p.Gln704Ter
ENST00000399233.7:c.2110C>T MANE Select	ENSP00000382179.4:p.Gln704Ter
NM_000259.3:c.2110C>T , LRG_86t1:c.2110C>T	NP_000250.3:p.Gln704Ter
NM_001142495.1:c.2110C>T	NP_001135967.1:p.Gln704Ter
NM_001142495.2:c.2110C>T	NP_001135967.2:p.Gln704Ter
NM_001382348.1:c.2182C>T	NP_001369277.1:p.Gln728Ter
NM_001382349.1:c.2182C>T	NP_001369278.1:p.Gln728Ter
ENST00000356338.10:c.2110C>T	ENSP00000348693.6:p.Gln704Ter
ENST00000356338.11:c.2110C>T	ENSP00000348693.7:p.Gln704Ter
ENST00000358212.10:c.2110C>T	ENSP00000350945.7:p.Gln704Ter
ENST00000399231.7:c.2110C>T	ENSP00000382177.3:p.Gln704Ter
ENST00000399231.8:c.2110C>T	ENSP00000382177.3:p.Gln704Ter
ENST00000399233.6:c.2110C>T	ENSP00000382179.3:p.Gln704Ter
ENST00000553916.5:c.2110C>T	ENSP00000451109.1:p.Gln704Ter
ENST00000553916.6:c.2002C>T	ENSP00000451109.2:p.Gln668Ter
ENST00000556196.5:c.*1794C>T	ENSP00000451178.1:n.*1794C>T
ENST00000556196.6:c.*1794C>T	ENSP00000451178.1:n.*1794C>T
ENST00000613858.4:c.2110C>T	ENSP00000481420.1:p.Gln704Ter
ENST00000685053.1:c.2110C>T	ENSP00000510081.1:p.Gln704Ter
ENST00000687574.1:c.2110C>T	ENSP00000510312.1:p.Gln704Ter
ENST00000687748.1:c.2331C>T	ENSP00000509068.1:n.2331C>T
ENST00000688010.1:n.1858C>T
ENST00000688792.1:n.253C>T
ENST00000689601.1:n.1134C>T
ENST00000692324.1:c.98C>T
ENST00000692556.1:c.2110C>T	ENSP00000510378.1:p.Gln704Ter
XM_005254397.2:c.2110C>T	XP_005254454.1:p.Gln704Ter
XM_005254397.4:c.2110C>T	XP_005254454.1:p.Gln704Ter
XM_005254398.3:c.2110C>T	XP_005254455.1:p.Gln704Ter
XM_011521606.1:c.2116C>T	XP_011519908.1:p.Gln706Ter
XM_011521606.2:c.2182C>T	XP_011519908.2:p.Gln728Ter
XM_011521607.1:c.2116C>T	XP_011519909.1:p.Gln706Ter
XM_011521607.3:c.2182C>T	XP_011519909.2:p.Gln728Ter
XM_011521608.1:c.2116C>T	XP_011519910.1:p.Gln706Ter
XM_011521608.3:c.2182C>T	XP_011519910.2:p.Gln728Ter
XM_011521609.1:c.2116C>T	XP_011519911.1:p.Gln706Ter
XM_011521609.3:c.2182C>T	XP_011519911.2:p.Gln728Ter
XM_011521610.1:c.2116C>T	XP_011519912.1:p.Gln706Ter
XM_011521610.3:c.2182C>T	XP_011519912.2:p.Gln728Ter
XM_011521611.1:c.2116C>T	XP_011519913.1:p.Gln706Ter
XM_011521611.3:c.2182C>T	XP_011519913.2:p.Gln728Ter
XM_011521612.1:c.2116C>T	XP_011519914.1:p.Gln706Ter
XM_011521612.3:c.2182C>T	XP_011519914.2:p.Gln728Ter
XM_017022227.2:c.2074C>T	XP_016877716.1:p.Gln692Ter