Canonical Allele Identifier: CA368542366

Gene: ACTL6B

Linked Data

• ClinVar Variation Id: 430804
• ClinVar RCV Id: RCV001028074 ; RCV000785974 ; RCV001526602 ; RCV001533053 ; RCV001381390 ; RCV002527120
• dbSNP Id: rs1131692228
• MyVariant Identifiers: chr7:g.100244260C>T (hg19) ; chr7:g.100646637C>T (hg38)
• PubMed: PMID:27479843 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100646637C>T , CM000669.2:g.100646637C>T	GRCh38
NC_000007.13:g.100244260C>T , CM000669.1:g.100244260C>T	GRCh37
NC_000007.12:g.100082196C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.1027G>A MANE Select	ENSP00000160382.5:p.Gly343Arg
ENST00000160382.9:c.1027G>A	ENSP00000160382.5:p.Gly343Arg
ENST00000487125.1:n.589G>A
NM_016188.4:c.1027G>A	NP_057272.1:p.Gly343Arg
XR_927476.1:n.1134G>A
NR_134539.1:n.1134G>A
NM_016188.5:c.1027G>A MANE Select	NP_057272.1:p.Gly343Arg
NR_134539.2:n.1121G>A