Canonical Allele Identifier: CA391630977

Gene: ACTC1 GJD2-DT

Linked Data

• COSMIC: COSM700037
• MyVariant Identifiers: chr15:g.35084669C>A (hg19) ; chr15:g.34792468C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792468C>A , CM000677.2:g.34792468C>A	GRCh38
NC_000015.9:g.35084669C>A , CM000677.1:g.35084669C>A	GRCh37
NC_000015.8:g.32871961C>A	NCBI36
NG_007553.1:g.8259G>T , LRG_388:g.8259G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.662G>T (ACTC1)
ENST00000290378.6:c.556G>T (ACTC1) MANE Select	ENSP00000290378.4:p.Asp186Tyr
ENST00000647798.1:n.650G>T (ACTC1)
ENST00000648556.1:n.713G>T (ACTC1)
ENST00000650163.1:n.636G>T (ACTC1)
ENST00000290378.4:c.556G>T (ACTC1)	ENSP00000290378.4:p.Asp186Tyr
ENST00000557860.1:n.246G>T (ACTC1)
ENST00000560563.1:n.55G>T (ACTC1)
NM_005159.4:c.556G>T , LRG_388t1:c.556G>T (ACTC1)	NP_005150.1:p.Asp186Tyr
NR_120329.1:n.299+15037C>A (GJD2-DT)
NM_005159.5:c.556G>T (ACTC1) MANE Select	NP_005150.1:p.Asp186Tyr