Canonical Allele Identifier: CA489655463

Gene: ACTC1 GJD2-DT

Linked Data

• COSMIC: COSM4903154
• MyVariant Identifiers: chr15:g.35084685C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792484C>T , CM000677.2:g.34792484C>T	GRCh38
NC_000015.9:g.35084685C>T , CM000677.1:g.35084685C>T	GRCh37
NC_000015.8:g.32871977C>T	NCBI36
NG_007553.1:g.8243G>A , LRG_388:g.8243G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.646G>A (ACTC1)
ENST00000290378.6:c.540G>A (ACTC1) MANE Select	ENSP00000290378.4:p.Leu180=
ENST00000647798.1:n.634G>A (ACTC1)
ENST00000648556.1:n.697G>A (ACTC1)
ENST00000650163.1:n.620G>A (ACTC1)
ENST00000290378.4:c.540G>A (ACTC1)	ENSP00000290378.4:p.Leu180=
ENST00000557860.1:n.230G>A (ACTC1)
ENST00000560563.1:n.39G>A (ACTC1)
NM_005159.4:c.540G>A , LRG_388t1:c.540G>A (ACTC1)	NP_005150.1:p.Leu180=
NR_120329.1:n.299+15053C>T (GJD2-DT)
NM_005159.5:c.540G>A (ACTC1) MANE Select	NP_005150.1:p.Leu180=