Canonical Allele Identifier: CA7115796

Gene: MYH6

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23400351C>T , CM000676.2:g.23400351C>T	GRCh38
NC_000014.8:g.23869560C>T , CM000676.1:g.23869560C>T	GRCh37
NC_000014.7:g.22939400C>T	NCBI36
NG_023444.1:g.12927G>A , LRG_389:g.12927G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002471.4:c.1486G>A MANE Select	NP_002462.2:p.Val496Met
ENST00000405093.9:c.1486G>A MANE Select	ENSP00000386041.3:p.Val496Met
NM_002471.3:c.1486G>A , LRG_389t1:c.1486G>A	NP_002462.2:p.Val496Met
ENST00000356287.3:c.1486G>A	ENSP00000348634.3:p.Val496Met
ENST00000405093.7:c.1486G>A	ENSP00000386041.3:p.Val496Met
ENST00000557461.1:n.1540G>A
ENST00000557461.2:n.1553G>A