Canonical Allele Identifier: CA368542227

Gene: ACTL6B

Linked Data

• MyVariant Identifiers: chr7:g.100244211T>A (hg19) ; chr7:g.100646588T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100646588T>A , CM000669.2:g.100646588T>A	GRCh38
NC_000007.13:g.100244211T>A , CM000669.1:g.100244211T>A	GRCh37
NC_000007.12:g.100082147T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.1076A>T MANE Select	ENSP00000160382.5:p.Asp359Val
ENST00000160382.9:c.1076A>T	ENSP00000160382.5:p.Asp359Val
ENST00000487125.1:n.638A>T
NM_016188.4:c.1076A>T	NP_057272.1:p.Asp359Val
XR_927476.1:n.1183A>T
NR_134539.1:n.1183A>T
NM_016188.5:c.1076A>T MANE Select	NP_057272.1:p.Asp359Val
NR_134539.2:n.1170A>T