Canonical Allele Identifier: CA406958777

Gene: MYH14

Linked Data

• gnomAD v4: 19-50286489-C-T
• MyVariant Identifiers: chr19:g.50789746C>T (hg19) ; chr19:g.50286489C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50286489C>T , CM000681.2:g.50286489C>T	GRCh38
NC_000019.9:g.50789746C>T , CM000681.1:g.50789746C>T	GRCh37
NC_000019.8:g.55481558C>T	NCBI36
NG_011645.1:g.87862C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425460.6:c.4448C>T	ENSP00000407879.1:p.Ala1483Val
ENST00000642316.2:c.4547C>T MANE Select	ENSP00000493594.1:p.Ala1516Val
ENST00000262269.12:c.1436C>T	ENSP00000262269.9:p.Ala479Val
ENST00000376970.6:c.4424C>T	ENSP00000366169.3:p.Ala1475Val
ENST00000425460.5:c.4448C>T	ENSP00000407879.1:p.Ala1483Val
ENST00000440075.6:c.353C>T	ENSP00000406273.3:p.Ala118Val
ENST00000595016.1:n.1726C>T
ENST00000596571.5:c.4424C>T	ENSP00000472819.1:p.Ala1475Val
ENST00000598205.5:c.4448C>T	ENSP00000472543.1:p.Ala1483Val
ENST00000601313.5:c.4547C>T	ENSP00000470298.1:p.Ala1516Val
NM_001077186.1:c.4448C>T	NP_001070654.1:p.Ala1483Val
NM_001145809.1:c.4547C>T	NP_001139281.1:p.Ala1516Val
NM_024729.3:c.4424C>T	NP_079005.3:p.Ala1475Val
XM_006723386.2:c.4448C>T	XP_006723449.1:p.Ala1483Val
XM_011527320.1:c.4568C>T	XP_011525622.1:p.Ala1523Val
XM_011527321.1:c.4544C>T	XP_011525623.1:p.Ala1515Val
XM_011527322.1:c.4472C>T	XP_011525624.1:p.Ala1491Val
XM_011527323.1:c.4448C>T	XP_011525625.1:p.Ala1483Val
XM_006723386.4:c.4448C>T	XP_006723449.1:p.Ala1483Val
XM_011527320.2:c.4568C>T	XP_011525622.1:p.Ala1523Val
XM_011527321.2:c.4544C>T	XP_011525623.1:p.Ala1515Val
XM_011527323.2:c.4448C>T	XP_011525625.1:p.Ala1483Val
XM_024451721.1:c.4424C>T	XP_024307489.1:p.Ala1475Val
NM_001077186.2:c.4448C>T	NP_001070654.1:p.Ala1483Val
NM_001145809.2:c.4547C>T MANE Select	NP_001139281.1:p.Ala1516Val
NM_024729.4:c.4424C>T	NP_079005.3:p.Ala1475Val