Canonical Allele Identifier: CA206272

Gene: MYO5A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.52317044C>T , CM000677.2:g.52317044C>T	GRCh38
NC_000015.9:g.52609241C>T , CM000677.1:g.52609241C>T	GRCh37
NC_000015.8:g.50396533C>T	NCBI36
NG_009887.1:g.217007G>A , LRG_86:g.217007G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001382347.1:c.5409+4G>A MANE Select	NP_001369276.1:n.5409+4G>A
ENST00000399233.7:c.5409+4G>A MANE Select	ENSP00000382179.4:n.5409+4G>A
NM_000259.3:c.5334+4G>A , LRG_86t1:c.5334+4G>A	NP_000250.3:n.5334+4G>A
NM_001142495.1:c.5253+4G>A	NP_001135967.1:n.5253+4G>A
NM_001142495.2:c.5253+4G>A	NP_001135967.2:n.5253+4G>A
NM_001382348.1:c.5481+4G>A	NP_001369277.1:n.5481+4G>A
NM_001382349.1:c.5406+4G>A	NP_001369278.1:n.5406+4G>A
ENST00000356338.10:c.5253+4G>A	ENSP00000348693.6:n.5253+4G>A
ENST00000356338.11:c.5328+4G>A	ENSP00000348693.7:n.5328+4G>A
ENST00000358212.10:c.5334+4G>A	ENSP00000350945.7:n.5334+4G>A
ENST00000399228.6:c.1905+4G>A	ENSP00000382174.2:n.1905+4G>A
ENST00000399229.6:c.1524+4G>A	ENSP00000382175.2:n.1524+4G>A
ENST00000399229.7:c.1935+4G>A	ENSP00000382175.3:n.1935+4G>A
ENST00000399231.7:c.5334+4G>A	ENSP00000382177.3:n.5334+4G>A
ENST00000399231.8:c.5334+4G>A	ENSP00000382177.3:n.5334+4G>A
ENST00000399233.6:c.5334+4G>A	ENSP00000382179.3:n.5334+4G>A
ENST00000465290.2:n.1192+4G>A
ENST00000553916.5:c.5328+4G>A	ENSP00000451109.1:n.5328+4G>A
ENST00000553916.6:c.5292+4G>A	ENSP00000451109.2:n.5292+4G>A
ENST00000556196.6:c.*4937+4G>A	ENSP00000451178.1:n.*4937+4G>A
ENST00000613858.4:c.5253+4G>A	ENSP00000481420.1:n.5253+4G>A
ENST00000685194.1:c.2889+4G>A	ENSP00000509314.1:n.2889+4G>A
ENST00000686166.1:n.2934+4G>A
ENST00000686171.1:c.1533+4G>A	ENSP00000509118.1:n.1533+4G>A
ENST00000686603.1:n.1604+4G>A
ENST00000686989.1:n.5619+4G>A
ENST00000687172.1:n.7135+4G>A
ENST00000687574.1:c.5253+4G>A	ENSP00000510312.1:n.5253+4G>A
ENST00000688074.1:c.2961+4G>A	ENSP00000509404.1:n.2961+4G>A
ENST00000688361.1:n.1315+4G>A
ENST00000688792.1:n.3477+4G>A
ENST00000688798.1:c.1689+4G>A	ENSP00000509340.1:n.1689+4G>A
ENST00000689601.1:n.4277+4G>A
ENST00000690802.1:n.960+4G>A
ENST00000692556.1:c.5325+4G>A	ENSP00000510378.1:n.5325+4G>A
ENST00000692646.1:c.2955+4G>A	ENSP00000510243.1:n.2955+4G>A
ENST00000692874.1:n.2252+4G>A
XM_005254397.2:c.5409+4G>A	XP_005254454.1:n.5409+4G>A
XM_005254397.4:c.5409+4G>A	XP_005254454.1:n.5409+4G>A
XM_005254398.3:c.5409+4G>A	XP_005254455.1:n.5409+4G>A
XM_011521606.1:c.5415+4G>A	XP_011519908.1:n.5415+4G>A
XM_011521606.2:c.5481+4G>A	XP_011519908.2:n.5481+4G>A
XM_011521607.1:c.5406+4G>A	XP_011519909.1:n.5406+4G>A
XM_011521607.3:c.5472+4G>A	XP_011519909.2:n.5472+4G>A
XM_011521608.1:c.5340+4G>A	XP_011519910.1:n.5340+4G>A
XM_011521608.3:c.5406+4G>A	XP_011519910.2:n.5406+4G>A
XM_011521609.1:c.5334+4G>A	XP_011519911.1:n.5334+4G>A
XM_011521609.3:c.5400+4G>A	XP_011519911.2:n.5400+4G>A
XM_011521610.1:c.5331+4G>A	XP_011519912.1:n.5331+4G>A
XM_011521610.3:c.5397+4G>A	XP_011519912.2:n.5397+4G>A
XM_011521611.1:c.5259+4G>A	XP_011519913.1:n.5259+4G>A
XM_011521611.3:c.5325+4G>A	XP_011519913.2:n.5325+4G>A
XM_011521612.1:c.5250+4G>A	XP_011519914.1:n.5250+4G>A
XM_011521612.3:c.5316+4G>A	XP_011519914.2:n.5316+4G>A
XM_017022227.2:c.5373+4G>A	XP_016877716.1:n.5373+4G>A