Canonical Allele Identifier: CA270685539

Gene: MYO5A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.52321305C>T , CM000677.2:g.52321305C>T	GRCh38
NC_000015.9:g.52613502C>T , CM000677.1:g.52613502C>T	GRCh37
NC_000015.8:g.50400794C>T	NCBI36
NG_009887.1:g.212746G>A , LRG_86:g.212746G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001382347.1:c.4951+54G>A MANE Select	NP_001369276.1:n.4951+54G>A
ENST00000399233.7:c.4951+54G>A MANE Select	ENSP00000382179.4:n.4951+54G>A
NM_000259.3:c.4876+54G>A , LRG_86t1:c.4876+54G>A	NP_000250.3:n.4876+54G>A
NM_001142495.1:c.4795+54G>A	NP_001135967.1:n.4795+54G>A
NM_001142495.2:c.4795+54G>A	NP_001135967.2:n.4795+54G>A
NM_001382348.1:c.5023+54G>A	NP_001369277.1:n.5023+54G>A
NM_001382349.1:c.4948+54G>A	NP_001369278.1:n.4948+54G>A
ENST00000356338.10:c.4795+54G>A	ENSP00000348693.6:n.4795+54G>A
ENST00000356338.11:c.4870+54G>A	ENSP00000348693.7:n.4870+54G>A
ENST00000358212.10:c.4876+54G>A	ENSP00000350945.7:n.4876+54G>A
ENST00000399228.6:c.1447+54G>A	ENSP00000382174.2:n.1447+54G>A
ENST00000399229.6:c.1066+54G>A	ENSP00000382175.2:n.1066+54G>A
ENST00000399229.7:c.1477+54G>A	ENSP00000382175.3:n.1477+54G>A
ENST00000399231.7:c.4876+54G>A	ENSP00000382177.3:n.4876+54G>A
ENST00000399231.8:c.4876+54G>A	ENSP00000382177.3:n.4876+54G>A
ENST00000399233.6:c.4876+54G>A	ENSP00000382179.3:n.4876+54G>A
ENST00000465290.2:n.734+54G>A
ENST00000553916.5:c.4870+54G>A	ENSP00000451109.1:n.4870+54G>A
ENST00000553916.6:c.4834+54G>A	ENSP00000451109.2:n.4834+54G>A
ENST00000556196.6:c.*4479+54G>A	ENSP00000451178.1:n.*4479+54G>A
ENST00000613858.4:c.4795+54G>A	ENSP00000481420.1:n.4795+54G>A
ENST00000685194.1:c.2431+54G>A	ENSP00000509314.1:n.2431+54G>A
ENST00000686166.1:n.514G>A
ENST00000686171.1:c.1075+54G>A	ENSP00000509118.1:n.1075+54G>A
ENST00000686603.1:n.1146+54G>A
ENST00000686989.1:n.5161+54G>A
ENST00000687172.1:n.6677+54G>A
ENST00000687574.1:c.4795+54G>A	ENSP00000510312.1:n.4795+54G>A
ENST00000688074.1:c.2503+54G>A	ENSP00000509404.1:n.2503+54G>A
ENST00000688792.1:n.3019+54G>A
ENST00000688798.1:c.1231+54G>A	ENSP00000509340.1:n.1231+54G>A
ENST00000689601.1:n.3819+54G>A
ENST00000690802.1:n.502+54G>A
ENST00000692556.1:c.4867+54G>A	ENSP00000510378.1:n.4867+54G>A
ENST00000692646.1:c.2497+54G>A	ENSP00000510243.1:n.2497+54G>A
ENST00000692874.1:n.1794+54G>A
XM_005254397.2:c.4951+54G>A	XP_005254454.1:n.4951+54G>A
XM_005254397.4:c.4951+54G>A	XP_005254454.1:n.4951+54G>A
XM_005254398.3:c.4951+54G>A	XP_005254455.1:n.4951+54G>A
XM_011521606.1:c.4957+54G>A	XP_011519908.1:n.4957+54G>A
XM_011521606.2:c.5023+54G>A	XP_011519908.2:n.5023+54G>A
XM_011521607.1:c.4948+54G>A	XP_011519909.1:n.4948+54G>A
XM_011521607.3:c.5014+54G>A	XP_011519909.2:n.5014+54G>A
XM_011521608.1:c.4882+54G>A	XP_011519910.1:n.4882+54G>A
XM_011521608.3:c.4948+54G>A	XP_011519910.2:n.4948+54G>A
XM_011521609.1:c.4876+54G>A	XP_011519911.1:n.4876+54G>A
XM_011521609.3:c.4942+54G>A	XP_011519911.2:n.4942+54G>A
XM_011521610.1:c.4873+54G>A	XP_011519912.1:n.4873+54G>A
XM_011521610.3:c.4939+54G>A	XP_011519912.2:n.4939+54G>A
XM_011521611.1:c.4801+54G>A	XP_011519913.1:n.4801+54G>A
XM_011521611.3:c.4867+54G>A	XP_011519913.2:n.4867+54G>A
XM_011521612.1:c.4792+54G>A	XP_011519914.1:n.4792+54G>A
XM_011521612.3:c.4858+54G>A	XP_011519914.2:n.4858+54G>A
XM_017022227.2:c.4915+54G>A	XP_016877716.1:n.4915+54G>A