Canonical Allele Identifier: CA406958778

Gene: MYH14

Linked Data

• ClinVar Variation Id: 1065099
• ClinVar RCV Id: RCV001375449 ; RCV002550219
• dbSNP Id: rs2123437042
• MyVariant Identifiers: chr19:g.50789748G>A (hg19) ; chr19:g.50286491G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50286491G>A , CM000681.2:g.50286491G>A	GRCh38
NC_000019.9:g.50789748G>A , CM000681.1:g.50789748G>A	GRCh37
NC_000019.8:g.55481560G>A	NCBI36
NG_011645.1:g.87864G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425460.6:c.4450G>A	ENSP00000407879.1:p.Glu1484Lys
ENST00000642316.2:c.4549G>A MANE Select	ENSP00000493594.1:p.Glu1517Lys
ENST00000262269.12:c.1438G>A	ENSP00000262269.9:p.Glu480Lys
ENST00000376970.6:c.4426G>A	ENSP00000366169.3:p.Glu1476Lys
ENST00000425460.5:c.4450G>A	ENSP00000407879.1:p.Glu1484Lys
ENST00000440075.6:c.355G>A	ENSP00000406273.3:p.Glu119Lys
ENST00000595016.1:n.1728G>A
ENST00000596571.5:c.4426G>A	ENSP00000472819.1:p.Glu1476Lys
ENST00000598205.5:c.4450G>A	ENSP00000472543.1:p.Glu1484Lys
ENST00000601313.5:c.4549G>A	ENSP00000470298.1:p.Glu1517Lys
NM_001077186.1:c.4450G>A	NP_001070654.1:p.Glu1484Lys
NM_001145809.1:c.4549G>A	NP_001139281.1:p.Glu1517Lys
NM_024729.3:c.4426G>A	NP_079005.3:p.Glu1476Lys
XM_006723386.2:c.4450G>A	XP_006723449.1:p.Glu1484Lys
XM_011527320.1:c.4570G>A	XP_011525622.1:p.Glu1524Lys
XM_011527321.1:c.4546G>A	XP_011525623.1:p.Glu1516Lys
XM_011527322.1:c.4474G>A	XP_011525624.1:p.Glu1492Lys
XM_011527323.1:c.4450G>A	XP_011525625.1:p.Glu1484Lys
XM_006723386.4:c.4450G>A	XP_006723449.1:p.Glu1484Lys
XM_011527320.2:c.4570G>A	XP_011525622.1:p.Glu1524Lys
XM_011527321.2:c.4546G>A	XP_011525623.1:p.Glu1516Lys
XM_011527323.2:c.4450G>A	XP_011525625.1:p.Glu1484Lys
XM_024451721.1:c.4426G>A	XP_024307489.1:p.Glu1476Lys
NM_001077186.2:c.4450G>A	NP_001070654.1:p.Glu1484Lys
NM_001145809.2:c.4549G>A MANE Select	NP_001139281.1:p.Glu1517Lys
NM_024729.4:c.4426G>A	NP_079005.3:p.Glu1476Lys