Canonical Allele Identifier: CA389002147

Gene: MYH6

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23389000A>G , CM000676.2:g.23389000A>G	GRCh38
NC_000014.8:g.23858209A>G , CM000676.1:g.23858209A>G	GRCh37
NC_000014.7:g.22928049A>G	NCBI36
NG_023444.1:g.24278T>C , LRG_389:g.24278T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002471.4:c.4034T>C MANE Select	NP_002462.2:p.Leu1345Pro
ENST00000405093.9:c.4034T>C MANE Select	ENSP00000386041.3:p.Leu1345Pro
NM_002471.3:c.4034T>C , LRG_389t1:c.4034T>C	NP_002462.2:p.Leu1345Pro
ENST00000356287.3:c.4034T>C	ENSP00000348634.3:p.Leu1345Pro
ENST00000405093.7:c.4034T>C	ENSP00000386041.3:p.Leu1345Pro