Canonical Allele Identifier: CA391630962

Gene: ACTC1 GJD2-DT

Linked Data

• COSMIC: COSM374183
• MyVariant Identifiers: chr15:g.35084662G>T (hg19) ; chr15:g.34792461G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792461G>T , CM000677.2:g.34792461G>T	GRCh38
NC_000015.9:g.35084662G>T , CM000677.1:g.35084662G>T	GRCh37
NC_000015.8:g.32871954G>T	NCBI36
NG_007553.1:g.8266C>A , LRG_388:g.8266C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.669C>A (ACTC1)
ENST00000290378.6:c.563C>A (ACTC1) MANE Select	ENSP00000290378.4:p.Thr188Asn
ENST00000647798.1:n.657C>A (ACTC1)
ENST00000648556.1:n.720C>A (ACTC1)
ENST00000650163.1:n.643C>A (ACTC1)
ENST00000290378.4:c.563C>A (ACTC1)	ENSP00000290378.4:p.Thr188Asn
ENST00000557860.1:n.253C>A (ACTC1)
ENST00000560563.1:n.62C>A (ACTC1)
NM_005159.4:c.563C>A , LRG_388t1:c.563C>A (ACTC1)	NP_005150.1:p.Thr188Asn
NR_120329.1:n.299+15030G>T (GJD2-DT)
NM_005159.5:c.563C>A (ACTC1) MANE Select	NP_005150.1:p.Thr188Asn