Canonical Allele Identifier: CA2340818751
Community Standard Title: NM_001145809.2(MYH14):c.3049C= (p.Leu1017=)
Gene: MYH14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50271424C= , CM000681.2:g.50271424C= GRCh38
NC_000019.9:g.50774681C= , CM000681.1:g.50774681C= GRCh37
NC_000019.8:g.55466493C= NCBI36
NG_011645.1:g.72797C=

Transcript Alleles

HGVS Amino-acid Change
NM_001145809.2:c.3049C= MANE Select NP_001139281.1:p.Leu1017=
ENST00000642316.2:c.3049C= MANE Select ENSP00000493594.1:p.Leu1017=
NM_001077186.1:c.2950C= NP_001070654.1:p.Leu984=
NM_001077186.2:c.2950C= NP_001070654.1:p.Leu984=
NM_001145809.1:c.3049C= NP_001139281.1:p.Leu1017=
NM_024729.3:c.2926C= NP_079005.3:p.Leu976=
NM_024729.4:c.2926C= NP_079005.3:p.Leu976=
ENST00000262269.12:c.-63C= ENSP00000262269.9:n.-63C=
ENST00000376970.6:c.2926C= ENSP00000366169.3:p.Leu976=
ENST00000425460.5:c.2950C= ENSP00000407879.1:p.Leu984=
ENST00000425460.6:c.2950C= ENSP00000407879.1:p.Leu984=
ENST00000440075.6:c.-727-4567C= ENSP00000406273.3:n.-727-4567C=
ENST00000596571.5:c.2926C= ENSP00000472819.1:p.Leu976=
ENST00000598205.5:c.2950C= ENSP00000472543.1:p.Leu984=
ENST00000599920.5:c.2950C= ENSP00000469573.1:p.Leu984=
ENST00000601313.5:c.3049C= ENSP00000470298.1:p.Leu1017=
XM_006723386.2:c.2950C= XP_006723449.1:p.Leu984=
XM_006723386.4:c.2950C= XP_006723449.1:p.Leu984=
XM_011527320.1:c.3070C= XP_011525622.1:p.Leu1024=
XM_011527320.2:c.3070C= XP_011525622.1:p.Leu1024=
XM_011527321.1:c.3046C= XP_011525623.1:p.Leu1016=
XM_011527321.2:c.3046C= XP_011525623.1:p.Leu1016=
XM_011527322.1:c.2974C= XP_011525624.1:p.Leu992=
XM_011527323.1:c.2950C= XP_011525625.1:p.Leu984=
XM_011527323.2:c.2950C= XP_011525625.1:p.Leu984=
XM_024451721.1:c.2926C= XP_024307489.1:p.Leu976=