Canonical Allele Identifier: CA9593480
Community Standard Title: NM_001145809.2(MYH14):c.4306C>T (p.Arg1436Trp)
Gene: MYH14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50281609C>T , CM000681.2:g.50281609C>T GRCh38
NC_000019.9:g.50784866C>T , CM000681.1:g.50784866C>T GRCh37
NC_000019.8:g.55476678C>T NCBI36
NG_011645.1:g.82982C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001145809.2:c.4306C>T MANE Select NP_001139281.1:p.Arg1436Trp
ENST00000642316.2:c.4306C>T MANE Select ENSP00000493594.1:p.Arg1436Trp
NM_001077186.1:c.4207C>T NP_001070654.1:p.Arg1403Trp
NM_001077186.2:c.4207C>T NP_001070654.1:p.Arg1403Trp
NM_001145809.1:c.4306C>T NP_001139281.1:p.Arg1436Trp
NM_024729.3:c.4183C>T NP_079005.3:p.Arg1395Trp
NM_024729.4:c.4183C>T NP_079005.3:p.Arg1395Trp
ENST00000262269.12:c.1195C>T ENSP00000262269.9:p.Arg399Trp
ENST00000376970.6:c.4183C>T ENSP00000366169.3:p.Arg1395Trp
ENST00000425460.5:c.4207C>T ENSP00000407879.1:p.Arg1403Trp
ENST00000425460.6:c.4207C>T ENSP00000407879.1:p.Arg1403Trp
ENST00000440075.6:c.112C>T ENSP00000406273.3:p.Arg38Trp
ENST00000596571.5:c.4183C>T ENSP00000472819.1:p.Arg1395Trp
ENST00000598205.5:c.4207C>T ENSP00000472543.1:p.Arg1403Trp
ENST00000601313.5:c.4306C>T ENSP00000470298.1:p.Arg1436Trp
XM_006723386.2:c.4207C>T XP_006723449.1:p.Arg1403Trp
XM_006723386.4:c.4207C>T XP_006723449.1:p.Arg1403Trp
XM_011527320.1:c.4327C>T XP_011525622.1:p.Arg1443Trp
XM_011527320.2:c.4327C>T XP_011525622.1:p.Arg1443Trp
XM_011527321.1:c.4303C>T XP_011525623.1:p.Arg1435Trp
XM_011527321.2:c.4303C>T XP_011525623.1:p.Arg1435Trp
XM_011527322.1:c.4231C>T XP_011525624.1:p.Arg1411Trp
XM_011527323.1:c.4207C>T XP_011525625.1:p.Arg1403Trp
XM_011527323.2:c.4207C>T XP_011525625.1:p.Arg1403Trp
XM_024451721.1:c.4183C>T XP_024307489.1:p.Arg1395Trp