Canonical Allele Identifier: CA391630894

Gene: ACTC1 GJD2-DT

Linked Data

• COSMIC: COSM1629515
• MyVariant Identifiers: chr15:g.35084633G>T (hg19) ; chr15:g.34792432G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792432G>T , CM000677.2:g.34792432G>T	GRCh38
NC_000015.9:g.35084633G>T , CM000677.1:g.35084633G>T	GRCh37
NC_000015.8:g.32871925G>T	NCBI36
NG_007553.1:g.8295C>A , LRG_388:g.8295C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.698C>A (ACTC1)
ENST00000290378.6:c.592C>A (ACTC1) MANE Select	ENSP00000290378.4:p.Arg198Ser
ENST00000647798.1:n.686C>A (ACTC1)
ENST00000648556.1:n.749C>A (ACTC1)
ENST00000650163.1:n.672C>A (ACTC1)
ENST00000290378.4:c.592C>A (ACTC1)	ENSP00000290378.4:p.Arg198Ser
ENST00000557860.1:n.282C>A (ACTC1)
ENST00000560563.1:n.91C>A (ACTC1)
NM_005159.4:c.592C>A , LRG_388t1:c.592C>A (ACTC1)	NP_005150.1:p.Arg198Ser
NR_120329.1:n.299+15001G>T (GJD2-DT)
NM_005159.5:c.592C>A (ACTC1) MANE Select	NP_005150.1:p.Arg198Ser