Canonical Allele Identifier: CA456752881

Gene: ACTL6B

Linked Data

• MyVariant Identifiers: chr7:g.100244225C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100646602C>T , CM000669.2:g.100646602C>T	GRCh38
NC_000007.13:g.100244225C>T , CM000669.1:g.100244225C>T	GRCh37
NC_000007.12:g.100082161C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.1062G>A MANE Select	ENSP00000160382.5:p.Leu354=
ENST00000160382.9:c.1062G>A	ENSP00000160382.5:p.Leu354=
ENST00000487125.1:n.624G>A
NM_016188.4:c.1062G>A	NP_057272.1:p.Leu354=
XR_927476.1:n.1169G>A
NR_134539.1:n.1169G>A
NM_016188.5:c.1062G>A MANE Select	NP_057272.1:p.Leu354=
NR_134539.2:n.1156G>A