Canonical Allele Identifier: CA9593991

Gene: MYH14

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50309713G>A , CM000681.2:g.50309713G>A	GRCh38
NC_000019.9:g.50812970G>A , CM000681.1:g.50812970G>A	GRCh37
NC_000019.8:g.55504782G>A	NCBI36
NG_011645.1:g.111086G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001145809.2:c.6034G>A MANE Select	NP_001139281.1:p.Glu2012Lys
ENST00000642316.2:c.6034G>A MANE Select	ENSP00000493594.1:p.Glu2012Lys
NM_001077186.1:c.5935G>A	NP_001070654.1:p.Glu1979Lys
NM_001077186.2:c.5935G>A	NP_001070654.1:p.Glu1979Lys
NM_001145809.1:c.6034G>A	NP_001139281.1:p.Glu2012Lys
NM_024729.3:c.5911G>A	NP_079005.3:p.Glu1971Lys
NM_024729.4:c.5911G>A	NP_079005.3:p.Glu1971Lys
ENST00000262269.12:c.*1395G>A	ENSP00000262269.9:n.*1395G>A
ENST00000376970.6:c.5911G>A	ENSP00000366169.3:p.Glu1971Lys
ENST00000425460.5:c.5935G>A	ENSP00000407879.1:p.Glu1979Lys
ENST00000425460.6:c.5935G>A	ENSP00000407879.1:p.Glu1979Lys
ENST00000440075.6:c.1840G>A	ENSP00000406273.3:p.Glu614Lys
ENST00000595016.1:n.3213G>A
ENST00000596571.5:c.5911G>A	ENSP00000472819.1:p.Glu1971Lys
ENST00000597072.1:n.1399G>A
ENST00000598205.5:c.5935G>A	ENSP00000472543.1:p.Glu1979Lys
ENST00000601313.5:c.6034G>A	ENSP00000470298.1:p.Glu2012Lys
XM_006723386.2:c.5935G>A	XP_006723449.1:p.Glu1979Lys
XM_006723386.4:c.5935G>A	XP_006723449.1:p.Glu1979Lys
XM_011527320.1:c.6055G>A	XP_011525622.1:p.Glu2019Lys
XM_011527320.2:c.6055G>A	XP_011525622.1:p.Glu2019Lys
XM_011527321.1:c.6031G>A	XP_011525623.1:p.Glu2011Lys
XM_011527321.2:c.6031G>A	XP_011525623.1:p.Glu2011Lys
XM_011527322.1:c.5959G>A	XP_011525624.1:p.Glu1987Lys
XM_011527323.1:c.5935G>A	XP_011525625.1:p.Glu1979Lys
XM_011527323.2:c.5935G>A	XP_011525625.1:p.Glu1979Lys
XM_024451721.1:c.5911G>A	XP_024307489.1:p.Glu1971Lys