Canonical Allele Identifier: CA016817
Community Standard Title: NM_000257.4(MYH7):c.77C>T (p.Ala26Val)
Gene: MYH7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433656G>A , CM000676.2:g.23433656G>A GRCh38
NC_000014.8:g.23902865G>A , CM000676.1:g.23902865G>A GRCh37
NC_000014.7:g.22972705G>A NCBI36
NG_007884.1:g.7006C>T , LRG_384:g.7006C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000257.4:c.77C>T MANE Select NP_000248.2:p.Ala26Val
ENST00000355349.4:c.77C>T MANE Select ENSP00000347507.3:p.Ala26Val
NM_000257.3:c.77C>T NP_000248.2:p.Ala26Val
ENST00000355349.3:c.77C>T ENSP00000347507.3:p.Ala26Val
XM_017021340.1:c.77C>T XP_016876829.1:p.Ala26Val
XR_245686.3:n.183C>T
Search 100 bp 5'
Search 100 bp 3'