Canonical Allele Identifier: CA389011942

Gene: MYH6

Linked Data

• COSMIC: COSM6274479
• MyVariant Identifiers: chr14:g.23862916G>T (hg19) ; chr14:g.23393707G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23393707G>T , CM000676.2:g.23393707G>T	GRCh38
NC_000014.8:g.23862916G>T , CM000676.1:g.23862916G>T	GRCh37
NC_000014.7:g.22932756G>T	NCBI36
NG_023444.1:g.19571C>A , LRG_389:g.19571C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405093.9:c.2887C>A MANE Select	ENSP00000386041.3:p.Leu963Met
ENST00000356287.3:c.2887C>A	ENSP00000348634.3:p.Leu963Met
ENST00000405093.7:c.2887C>A	ENSP00000386041.3:p.Leu963Met
NM_002471.3:c.2887C>A , LRG_389t1:c.2887C>A	NP_002462.2:p.Leu963Met
NM_002471.4:c.2887C>A MANE Select	NP_002462.2:p.Leu963Met