Canonical Allele Identifier: CA391629326

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 1512610
• ClinVar RCV Id: RCV002018199
• dbSNP Id: rs1891695577
• COSMIC: COSM1172253
• MyVariant Identifiers: chr15:g.35083341G>C (hg19) ; chr15:g.34791140G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791140G>C , CM000677.2:g.34791140G>C	GRCh38
NC_000015.9:g.35083341G>C , CM000677.1:g.35083341G>C	GRCh37
NC_000015.8:g.32870633G>C	NCBI36
NG_007553.1:g.9587C>G , LRG_388:g.9587C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.1864C>G (ACTC1)
ENST00000290378.6:c.964C>G (ACTC1) MANE Select	ENSP00000290378.4:p.Leu322Val
ENST00000647798.1:n.1058C>G (ACTC1)
ENST00000650163.1:n.1044C>G (ACTC1)
ENST00000290378.4:c.964C>G (ACTC1)	ENSP00000290378.4:p.Leu322Val
NM_005159.4:c.964C>G , LRG_388t1:c.964C>G (ACTC1)	NP_005150.1:p.Leu322Val
NR_120329.1:n.299+13709G>C (GJD2-DT)
NM_005159.5:c.964C>G (ACTC1) MANE Select	NP_005150.1:p.Leu322Val