Canonical Allele Identifier: CA134408

Gene: MYH6

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23387778C>T , CM000676.2:g.23387778C>T	GRCh38
NC_000014.8:g.23856987C>T , CM000676.1:g.23856987C>T	GRCh37
NC_000014.7:g.22926827C>T	NCBI36
NG_023444.1:g.25500G>A , LRG_389:g.25500G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002471.4:c.4505G>A MANE Select	NP_002462.2:p.Arg1502Gln
ENST00000405093.9:c.4505G>A MANE Select	ENSP00000386041.3:p.Arg1502Gln
NM_002471.3:c.4505G>A , LRG_389t1:c.4505G>A	NP_002462.2:p.Arg1502Gln
ENST00000356287.3:c.4505G>A	ENSP00000348634.3:p.Arg1502Gln
ENST00000405093.7:c.4505G>A	ENSP00000386041.3:p.Arg1502Gln