Canonical Allele Identifier: CA368542064

Gene: ACTL6B

Linked Data

• MyVariant Identifiers: chr7:g.100244172A>C (hg19) ; chr7:g.100646549A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100646549A>C , CM000669.2:g.100646549A>C	GRCh38
NC_000007.13:g.100244172A>C , CM000669.1:g.100244172A>C	GRCh37
NC_000007.12:g.100082108A>C	NCBI36
NG_007989.1:g.2T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.1113+2T>G MANE Select	ENSP00000160382.5:n.1113+2T>G
ENST00000160382.9:c.1113+2T>G	ENSP00000160382.5:n.1113+2T>G
ENST00000487125.1:n.675+2T>G
NM_016188.4:c.1113+2T>G	NP_057272.1:n.1113+2T>G
XR_927476.1:n.1220+2T>G
NR_134539.1:n.1220+2T>G
NM_016188.5:c.1113+2T>G MANE Select	NP_057272.1:n.1113+2T>G
NR_134539.2:n.1207+2T>G