Canonical Allele Identifier: CA129426

Gene: MYH14

Linked Data

• ClinVar Variation Id: 30739
• ClinVar RCV Id: RCV000023718 ; RCV003228899
• dbSNP Id: rs113993956
• gnomAD v4: 19-50268255-G-T
• MyVariant Identifiers: chr19:g.50771512G>T (hg19) ; chr19:g.50268255G>T (hg38)
• PubMed: PMID:21480433 ; PMID:26257172

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50268255G>T , CM000681.2:g.50268255G>T	GRCh38
NC_000019.9:g.50771512G>T , CM000681.1:g.50771512G>T	GRCh37
NC_000019.8:g.55463324G>T	NCBI36
NG_011645.1:g.69628G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000425460.6:c.2822G>T	ENSP00000407879.1:p.Arg941Leu
ENST00000642316.2:c.2921G>T MANE Select	ENSP00000493594.1:p.Arg974Leu
ENST00000376970.6:c.2798G>T	ENSP00000366169.3:p.Arg933Leu
ENST00000425460.5:c.2822G>T	ENSP00000407879.1:p.Arg941Leu
ENST00000440075.6:c.-727-7736G>T	ENSP00000406273.3:n.-727-7736G>T
ENST00000596571.5:c.2798G>T	ENSP00000472819.1:p.Arg933Leu
ENST00000598205.5:c.2822G>T	ENSP00000472543.1:p.Arg941Leu
ENST00000599920.5:c.2822G>T	ENSP00000469573.1:p.Arg941Leu
ENST00000601313.5:c.2921G>T	ENSP00000470298.1:p.Arg974Leu
NM_001077186.1:c.2822G>T	NP_001070654.1:p.Arg941Leu
NM_001145809.1:c.2921G>T	NP_001139281.1:p.Arg974Leu
NM_024729.3:c.2798G>T	NP_079005.3:p.Arg933Leu
XM_006723386.2:c.2822G>T	XP_006723449.1:p.Arg941Leu
XM_011527320.1:c.2942G>T	XP_011525622.1:p.Arg981Leu
XM_011527321.1:c.2918G>T	XP_011525623.1:p.Arg973Leu
XM_011527322.1:c.2846G>T	XP_011525624.1:p.Arg949Leu
XM_011527323.1:c.2822G>T	XP_011525625.1:p.Arg941Leu
XM_006723386.4:c.2822G>T	XP_006723449.1:p.Arg941Leu
XM_011527320.2:c.2942G>T	XP_011525622.1:p.Arg981Leu
XM_011527321.2:c.2918G>T	XP_011525623.1:p.Arg973Leu
XM_011527323.2:c.2822G>T	XP_011525625.1:p.Arg941Leu
XM_024451721.1:c.2798G>T	XP_024307489.1:p.Arg933Leu
NM_001077186.2:c.2822G>T	NP_001070654.1:p.Arg941Leu
NM_001145809.2:c.2921G>T MANE Select	NP_001139281.1:p.Arg974Leu
NM_024729.4:c.2798G>T	NP_079005.3:p.Arg933Leu