Canonical Allele Identifier: CA368542151
Gene: ACTL6B HGNC NCBI

Linked Data

dbSNP Id: rs1410771969

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646570A>G , CM000669.2:g.100646570A>G GRCh38
NC_000007.13:g.100244193A>G , CM000669.1:g.100244193A>G GRCh37
NC_000007.12:g.100082129A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.1094T>C MANE Select ENSP00000160382.5:p.Leu365Pro
ENST00000160382.9:c.1094T>C ENSP00000160382.5:p.Leu365Pro
ENST00000487125.1:n.656T>C
NM_016188.4:c.1094T>C NP_057272.1:p.Leu365Pro
XR_927476.1:n.1201T>C
NR_134539.1:n.1201T>C
NM_016188.5:c.1094T>C MANE Select NP_057272.1:p.Leu365Pro
NR_134539.2:n.1188T>C