Canonical Allele Identifier: CA368542079
Gene: ACTL6B HGNC NCBI

Linked Data

gnomAD v4: 7-100646552-G-A
MyVariant Identifiers: chr7:g.100244175G>A (hg19) chr7:g.100646552G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646552G>A , CM000669.2:g.100646552G>A GRCh38
NC_000007.13:g.100244175G>A , CM000669.1:g.100244175G>A GRCh37
NC_000007.12:g.100082111G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.1112C>T MANE Select ENSP00000160382.5:p.Pro371Leu
ENST00000160382.9:c.1112C>T ENSP00000160382.5:p.Pro371Leu
ENST00000487125.1:n.674C>T
NM_016188.4:c.1112C>T NP_057272.1:p.Pro371Leu
XR_927476.1:n.1219C>T
NR_134539.1:n.1219C>T
NM_016188.5:c.1112C>T MANE Select NP_057272.1:p.Pro371Leu
NR_134539.2:n.1206C>T
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