Canonical Allele Identifier: CA176949
Community Standard Title: NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys)
Gene: MYH6 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23390281C>T , CM000676.2:g.23390281C>T GRCh38
NC_000014.8:g.23859490C>T , CM000676.1:g.23859490C>T GRCh37
NC_000014.7:g.22929330C>T NCBI36
NG_023444.1:g.22997G>A , LRG_389:g.22997G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002471.4:c.3508G>A MANE Select NP_002462.2:p.Glu1170Lys
ENST00000405093.9:c.3508G>A MANE Select ENSP00000386041.3:p.Glu1170Lys
NM_002471.3:c.3508G>A , LRG_389t1:c.3508G>A NP_002462.2:p.Glu1170Lys
ENST00000356287.3:c.3508G>A ENSP00000348634.3:p.Glu1170Lys
ENST00000405093.7:c.3508G>A ENSP00000386041.3:p.Glu1170Lys
Search 100 bp 5'
Search 100 bp 3'