Canonical Allele Identifier: CA456753056
Gene: ACTL6B HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.100244449C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646826C>G , CM000669.2:g.100646826C>G GRCh38
NC_000007.13:g.100244449C>G , CM000669.1:g.100244449C>G GRCh37
NC_000007.12:g.100082385C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.942G>C MANE Select ENSP00000160382.5:p.Leu314=
ENST00000160382.9:c.942G>C ENSP00000160382.5:p.Leu314=
ENST00000487125.1:n.504G>C
NM_016188.4:c.942G>C NP_057272.1:p.Leu314=
XR_927476.1:n.1049G>C
NR_134539.1:n.1049G>C
NM_016188.5:c.942G>C MANE Select NP_057272.1:p.Leu314=
NR_134539.2:n.1036G>C