Canonical Allele Identifier: CA133477
Community Standard Title: NM_001145809.2(MYH14):c.2250A>G (p.Pro750=)
Gene: MYH14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50259161A>G , CM000681.2:g.50259161A>G GRCh38
NC_000019.9:g.50762418A>G , CM000681.1:g.50762418A>G GRCh37
NC_000019.8:g.55454230A>G NCBI36
NG_011645.1:g.60534A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001145809.2:c.2250A>G MANE Select NP_001139281.1:p.Pro750=
ENST00000642316.2:c.2250A>G MANE Select ENSP00000493594.1:p.Pro750=
NM_001077186.1:c.2151A>G NP_001070654.1:p.Pro717=
NM_001077186.2:c.2151A>G NP_001070654.1:p.Pro717=
NM_001145809.1:c.2250A>G NP_001139281.1:p.Pro750=
NM_024729.3:c.2127A>G NP_079005.3:p.Pro709=
NM_024729.4:c.2127A>G NP_079005.3:p.Pro709=
ENST00000376970.6:c.2127A>G ENSP00000366169.3:p.Pro709=
ENST00000425460.5:c.2151A>G ENSP00000407879.1:p.Pro717=
ENST00000425460.6:c.2151A>G ENSP00000407879.1:p.Pro717=
ENST00000440075.6:c.-728+9407A>G ENSP00000406273.3:n.-728+9407A>G
ENST00000596571.5:c.2127A>G ENSP00000472819.1:p.Pro709=
ENST00000598205.5:c.2151A>G ENSP00000472543.1:p.Pro717=
ENST00000599920.5:c.2151A>G ENSP00000469573.1:p.Pro717=
ENST00000601313.5:c.2250A>G ENSP00000470298.1:p.Pro750=
XM_006723386.2:c.2151A>G XP_006723449.1:p.Pro717=
XM_006723386.4:c.2151A>G XP_006723449.1:p.Pro717=
XM_011527320.1:c.2271A>G XP_011525622.1:p.Pro757=
XM_011527320.2:c.2271A>G XP_011525622.1:p.Pro757=
XM_011527321.1:c.2247A>G XP_011525623.1:p.Pro749=
XM_011527321.2:c.2247A>G XP_011525623.1:p.Pro749=
XM_011527322.1:c.2175A>G XP_011525624.1:p.Pro725=
XM_011527323.1:c.2151A>G XP_011525625.1:p.Pro717=
XM_011527323.2:c.2151A>G XP_011525625.1:p.Pro717=
XM_024451721.1:c.2127A>G XP_024307489.1:p.Pro709=