Canonical Allele Identifier: CA9593545

Gene: MYH14

Linked Data

• dbSNP Id: rs762462647
• ExAC: 19:50789751 GA / G
• MyVariant Identifiers: chr19:g.50789752del (hg19) ; chr19:g.50286495del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50286495del , CM000681.2:g.50286495del	GRCh38
NC_000019.9:g.50789752del , CM000681.1:g.50789752del	GRCh37
NC_000019.8:g.55481564del	NCBI36
NG_011645.1:g.87868del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425460.6:c.4454del	ENSP00000407879.1:p.Glu1485GlyfsTer29
ENST00000642316.2:c.4553del MANE Select	ENSP00000493594.1:p.Glu1518GlyfsTer29
ENST00000262269.12:c.1442del	ENSP00000262269.9:p.Glu481GlyfsTer22
ENST00000376970.6:c.4430del	ENSP00000366169.3:p.Glu1477GlyfsTer29
ENST00000425460.5:c.4454del	ENSP00000407879.1:p.Glu1485GlyfsTer29
ENST00000440075.6:c.359del	ENSP00000406273.3:p.Glu120GlyfsTer29
ENST00000595016.1:n.1732del
ENST00000596571.5:c.4430del	ENSP00000472819.1:p.Glu1477GlyfsTer29
ENST00000598205.5:c.4454del	ENSP00000472543.1:p.Glu1485GlyfsTer29
ENST00000601313.5:c.4553del	ENSP00000470298.1:p.Glu1518GlyfsTer29
NM_001077186.1:c.4454del	NP_001070654.1:p.Glu1485GlyfsTer29
NM_001145809.1:c.4553del	NP_001139281.1:p.Glu1518GlyfsTer29
NM_024729.3:c.4430del	NP_079005.3:p.Glu1477GlyfsTer29
XM_006723386.2:c.4454del	XP_006723449.1:p.Glu1485GlyfsTer29
XM_011527320.1:c.4574del	XP_011525622.1:p.Glu1525GlyfsTer29
XM_011527321.1:c.4550del	XP_011525623.1:p.Glu1517GlyfsTer29
XM_011527322.1:c.4478del	XP_011525624.1:p.Glu1493GlyfsTer29
XM_011527323.1:c.4454del	XP_011525625.1:p.Glu1485GlyfsTer29
XM_006723386.4:c.4454del	XP_006723449.1:p.Glu1485GlyfsTer29
XM_011527320.2:c.4574del	XP_011525622.1:p.Glu1525GlyfsTer29
XM_011527321.2:c.4550del	XP_011525623.1:p.Glu1517GlyfsTer29
XM_011527323.2:c.4454del	XP_011525625.1:p.Glu1485GlyfsTer29
XM_024451721.1:c.4430del	XP_024307489.1:p.Glu1477GlyfsTer29
NM_001077186.2:c.4454del	NP_001070654.1:p.Glu1485GlyfsTer29
NM_001145809.2:c.4553del MANE Select	NP_001139281.1:p.Glu1518GlyfsTer29
NM_024729.4:c.4430del	NP_079005.3:p.Glu1477GlyfsTer29