Canonical Allele Identifier: CA7114579
Community Standard Title: NM_002471.4(MYH6):c.4985C>T (p.Ala1662Val)
Gene: MYH6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23386106G>A , CM000676.2:g.23386106G>A GRCh38
NC_000014.8:g.23855315G>A , CM000676.1:g.23855315G>A GRCh37
NC_000014.7:g.22925155G>A NCBI36
NG_023444.1:g.27172C>T , LRG_389:g.27172C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002471.4:c.4985C>T MANE Select NP_002462.2:p.Ala1662Val
ENST00000405093.9:c.4985C>T MANE Select ENSP00000386041.3:p.Ala1662Val
NM_002471.3:c.4985C>T , LRG_389t1:c.4985C>T NP_002462.2:p.Ala1662Val
ENST00000356287.3:c.4985C>T ENSP00000348634.3:p.Ala1662Val
ENST00000405093.7:c.4985C>T ENSP00000386041.3:p.Ala1662Val