Canonical Allele Identifier: CA406959289

Gene: MYH14

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50249119G>T , CM000681.2:g.50249119G>T	GRCh38
NC_000019.9:g.50752376G>T , CM000681.1:g.50752376G>T	GRCh37
NC_000019.8:g.55444188G>T	NCBI36
NG_011645.1:g.50492G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001145809.2:c.1462G>T MANE Select	NP_001139281.1:p.Ala488Ser
ENST00000642316.2:c.1462G>T MANE Select	ENSP00000493594.1:p.Ala488Ser
NM_001077186.1:c.1462G>T	NP_001070654.1:p.Ala488Ser
NM_001077186.2:c.1462G>T	NP_001070654.1:p.Ala488Ser
NM_001145809.1:c.1462G>T	NP_001139281.1:p.Ala488Ser
NM_024729.3:c.1438G>T	NP_079005.3:p.Ala480Ser
NM_024729.4:c.1438G>T	NP_079005.3:p.Ala480Ser
ENST00000376970.6:c.1438G>T	ENSP00000366169.3:p.Ala480Ser
ENST00000425460.5:c.1462G>T	ENSP00000407879.1:p.Ala488Ser
ENST00000425460.6:c.1462G>T	ENSP00000407879.1:p.Ala488Ser
ENST00000440075.6:c.-853G>T	ENSP00000406273.3:n.-853G>T
ENST00000596571.5:c.1438G>T	ENSP00000472819.1:p.Ala480Ser
ENST00000598205.5:c.1462G>T	ENSP00000472543.1:p.Ala488Ser
ENST00000599920.5:c.1462G>T	ENSP00000469573.1:p.Ala488Ser
ENST00000601313.5:c.1462G>T	ENSP00000470298.1:p.Ala488Ser
ENST00000646861.1:c.*497G>T	ENSP00000493667.1:n.*497G>T
XM_006723386.2:c.1462G>T	XP_006723449.1:p.Ala488Ser
XM_006723386.4:c.1462G>T	XP_006723449.1:p.Ala488Ser
XM_011527320.1:c.1582G>T	XP_011525622.1:p.Ala528Ser
XM_011527320.2:c.1582G>T	XP_011525622.1:p.Ala528Ser
XM_011527321.1:c.1558G>T	XP_011525623.1:p.Ala520Ser
XM_011527321.2:c.1558G>T	XP_011525623.1:p.Ala520Ser
XM_011527322.1:c.1486G>T	XP_011525624.1:p.Ala496Ser
XM_011527323.1:c.1462G>T	XP_011525625.1:p.Ala488Ser
XM_011527323.2:c.1462G>T	XP_011525625.1:p.Ala488Ser
XM_024451721.1:c.1438G>T	XP_024307489.1:p.Ala480Ser