Canonical Allele Identifier: CA456753023

Gene: ACTL6B

Linked Data

• MyVariant Identifiers: chr7:g.100244404G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100646781G>A , CM000669.2:g.100646781G>A	GRCh38
NC_000007.13:g.100244404G>A , CM000669.1:g.100244404G>A	GRCh37
NC_000007.12:g.100082340G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.987C>T MANE Select	ENSP00000160382.5:p.Ser329=
ENST00000160382.9:c.987C>T	ENSP00000160382.5:p.Ser329=
ENST00000487125.1:n.549C>T
NM_016188.4:c.987C>T	NP_057272.1:p.Ser329=
XR_927476.1:n.1094C>T
NR_134539.1:n.1094C>T
NM_016188.5:c.987C>T MANE Select	NP_057272.1:p.Ser329=
NR_134539.2:n.1081C>T