Canonical Allele Identifier: CA252135
Gene: MYH14 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50259210C>A , CM000681.2:g.50259210C>A GRCh38
NC_000019.9:g.50762467C>A , CM000681.1:g.50762467C>A GRCh37
NC_000019.8:g.55454279C>A NCBI36
NG_011645.1:g.60583C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000425460.6:c.2200C>A ENSP00000407879.1:p.Arg734Ser
ENST00000642316.2:c.2299C>A MANE Select ENSP00000493594.1:p.Arg767Ser
ENST00000376970.6:c.2176C>A ENSP00000366169.3:p.Arg726Ser
ENST00000425460.5:c.2200C>A ENSP00000407879.1:p.Arg734Ser
ENST00000440075.6:c.-728+9456C>A ENSP00000406273.3:n.-728+9456C>A
ENST00000596571.5:c.2176C>A ENSP00000472819.1:p.Arg726Ser
ENST00000598205.5:c.2200C>A ENSP00000472543.1:p.Arg734Ser
ENST00000599920.5:c.2200C>A ENSP00000469573.1:p.Arg734Ser
ENST00000601313.5:c.2299C>A ENSP00000470298.1:p.Arg767Ser
NM_001077186.1:c.2200C>A NP_001070654.1:p.Arg734Ser
NM_001145809.1:c.2299C>A NP_001139281.1:p.Arg767Ser
NM_024729.3:c.2176C>A NP_079005.3:p.Arg726Ser
XM_006723386.2:c.2200C>A XP_006723449.1:p.Arg734Ser
XM_011527320.1:c.2320C>A XP_011525622.1:p.Arg774Ser
XM_011527321.1:c.2296C>A XP_011525623.1:p.Arg766Ser
XM_011527322.1:c.2224C>A XP_011525624.1:p.Arg742Ser
XM_011527323.1:c.2200C>A XP_011525625.1:p.Arg734Ser
XM_006723386.4:c.2200C>A XP_006723449.1:p.Arg734Ser
XM_011527320.2:c.2320C>A XP_011525622.1:p.Arg774Ser
XM_011527321.2:c.2296C>A XP_011525623.1:p.Arg766Ser
XM_011527323.2:c.2200C>A XP_011525625.1:p.Arg734Ser
XM_024451721.1:c.2176C>A XP_024307489.1:p.Arg726Ser
NM_001077186.2:c.2200C>A NP_001070654.1:p.Arg734Ser
NM_001145809.2:c.2299C>A MANE Select NP_001139281.1:p.Arg767Ser
NM_024729.4:c.2176C>A NP_079005.3:p.Arg726Ser