Canonical Allele Identifier: CA133488
Community Standard Title: NM_001145809.2(MYH14):c.3033+11T>C
Gene: MYH14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50268378T>C , CM000681.2:g.50268378T>C GRCh38
NC_000019.9:g.50771635T>C , CM000681.1:g.50771635T>C GRCh37
NC_000019.8:g.55463447T>C NCBI36
NG_011645.1:g.69751T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001145809.2:c.3033+11T>C MANE Select NP_001139281.1:n.3033+11T>C
ENST00000642316.2:c.3033+11T>C MANE Select ENSP00000493594.1:n.3033+11T>C
NM_001077186.1:c.2934+11T>C NP_001070654.1:n.2934+11T>C
NM_001077186.2:c.2934+11T>C NP_001070654.1:n.2934+11T>C
NM_001145809.1:c.3033+11T>C NP_001139281.1:n.3033+11T>C
NM_024729.3:c.2910+11T>C NP_079005.3:n.2910+11T>C
NM_024729.4:c.2910+11T>C NP_079005.3:n.2910+11T>C
ENST00000262269.12:c.-79+11T>C ENSP00000262269.9:n.-79+11T>C
ENST00000376970.6:c.2910+11T>C ENSP00000366169.3:n.2910+11T>C
ENST00000425460.5:c.2934+11T>C ENSP00000407879.1:n.2934+11T>C
ENST00000425460.6:c.2934+11T>C ENSP00000407879.1:n.2934+11T>C
ENST00000440075.6:c.-727-7613T>C ENSP00000406273.3:n.-727-7613T>C
ENST00000596571.5:c.2910+11T>C ENSP00000472819.1:n.2910+11T>C
ENST00000598205.5:c.2934+11T>C ENSP00000472543.1:n.2934+11T>C
ENST00000599920.5:c.2934+11T>C ENSP00000469573.1:n.2934+11T>C
ENST00000601313.5:c.3033+11T>C ENSP00000470298.1:n.3033+11T>C
XM_006723386.2:c.2934+11T>C XP_006723449.1:n.2934+11T>C
XM_006723386.4:c.2934+11T>C XP_006723449.1:n.2934+11T>C
XM_011527320.1:c.3054+11T>C XP_011525622.1:n.3054+11T>C
XM_011527320.2:c.3054+11T>C XP_011525622.1:n.3054+11T>C
XM_011527321.1:c.3030+11T>C XP_011525623.1:n.3030+11T>C
XM_011527321.2:c.3030+11T>C XP_011525623.1:n.3030+11T>C
XM_011527322.1:c.2958+11T>C XP_011525624.1:n.2958+11T>C
XM_011527323.1:c.2934+11T>C XP_011525625.1:n.2934+11T>C
XM_011527323.2:c.2934+11T>C XP_011525625.1:n.2934+11T>C
XM_024451721.1:c.2910+11T>C XP_024307489.1:n.2910+11T>C