Canonical Allele Identifier: CA368542811

Gene: ACTL6B

Linked Data

• MyVariant Identifiers: chr7:g.100244592A>G (hg19) ; chr7:g.100646969A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100646969A>G , CM000669.2:g.100646969A>G	GRCh38
NC_000007.13:g.100244592A>G , CM000669.1:g.100244592A>G	GRCh37
NC_000007.12:g.100082528A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.936+2T>C MANE Select	ENSP00000160382.5:n.936+2T>C
ENST00000160382.9:c.936+2T>C	ENSP00000160382.5:n.936+2T>C
ENST00000487125.1:n.498+2T>C
NM_016188.4:c.936+2T>C	NP_057272.1:n.936+2T>C
XR_927476.1:n.1043+2T>C
NR_134539.1:n.1043+2T>C
NM_016188.5:c.936+2T>C MANE Select	NP_057272.1:n.936+2T>C
NR_134539.2:n.1030+2T>C