Canonical Allele Identifier: CA406948818

Gene: MYH14

Linked Data

• gnomAD v4: 19-50268272-C-A
• MyVariant Identifiers: chr19:g.50771529C>A (hg19) ; chr19:g.50268272C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50268272C>A , CM000681.2:g.50268272C>A	GRCh38
NC_000019.9:g.50771529C>A , CM000681.1:g.50771529C>A	GRCh37
NC_000019.8:g.55463341C>A	NCBI36
NG_011645.1:g.69645C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425460.6:c.2839C>A	ENSP00000407879.1:p.Leu947Met
ENST00000642316.2:c.2938C>A MANE Select	ENSP00000493594.1:p.Leu980Met
ENST00000376970.6:c.2815C>A	ENSP00000366169.3:p.Leu939Met
ENST00000425460.5:c.2839C>A	ENSP00000407879.1:p.Leu947Met
ENST00000440075.6:c.-727-7719C>A	ENSP00000406273.3:n.-727-7719C>A
ENST00000596571.5:c.2815C>A	ENSP00000472819.1:p.Leu939Met
ENST00000598205.5:c.2839C>A	ENSP00000472543.1:p.Leu947Met
ENST00000599920.5:c.2839C>A	ENSP00000469573.1:p.Leu947Met
ENST00000601313.5:c.2938C>A	ENSP00000470298.1:p.Leu980Met
NM_001077186.1:c.2839C>A	NP_001070654.1:p.Leu947Met
NM_001145809.1:c.2938C>A	NP_001139281.1:p.Leu980Met
NM_024729.3:c.2815C>A	NP_079005.3:p.Leu939Met
XM_006723386.2:c.2839C>A	XP_006723449.1:p.Leu947Met
XM_011527320.1:c.2959C>A	XP_011525622.1:p.Leu987Met
XM_011527321.1:c.2935C>A	XP_011525623.1:p.Leu979Met
XM_011527322.1:c.2863C>A	XP_011525624.1:p.Leu955Met
XM_011527323.1:c.2839C>A	XP_011525625.1:p.Leu947Met
XM_006723386.4:c.2839C>A	XP_006723449.1:p.Leu947Met
XM_011527320.2:c.2959C>A	XP_011525622.1:p.Leu987Met
XM_011527321.2:c.2935C>A	XP_011525623.1:p.Leu979Met
XM_011527323.2:c.2839C>A	XP_011525625.1:p.Leu947Met
XM_024451721.1:c.2815C>A	XP_024307489.1:p.Leu939Met
NM_001077186.2:c.2839C>A	NP_001070654.1:p.Leu947Met
NM_001145809.2:c.2938C>A MANE Select	NP_001139281.1:p.Leu980Met
NM_024729.4:c.2815C>A	NP_079005.3:p.Leu939Met