Canonical Allele Identifier: CA391629754

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 2942164
• ClinVar RCV Id: RCV003805378
• MyVariant Identifiers: chr15:g.35084321G>C (hg19) ; chr15:g.34792120G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792120G>C , CM000677.2:g.34792120G>C	GRCh38
NC_000015.9:g.35084321G>C , CM000677.1:g.35084321G>C	GRCh37
NC_000015.8:g.32871613G>C	NCBI36
NG_007553.1:g.8607C>G , LRG_388:g.8607C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.884C>G (ACTC1)
ENST00000290378.6:c.778C>G (ACTC1) MANE Select	ENSP00000290378.4:p.Pro260Ala
ENST00000647798.1:n.872C>G (ACTC1)
ENST00000650163.1:n.858C>G (ACTC1)
ENST00000290378.4:c.778C>G (ACTC1)	ENSP00000290378.4:p.Pro260Ala
ENST00000557860.1:n.468C>G (ACTC1)
ENST00000560563.1:n.277C>G (ACTC1)
NM_005159.4:c.778C>G , LRG_388t1:c.778C>G (ACTC1)	NP_005150.1:p.Pro260Ala
NR_120329.1:n.299+14689G>C (GJD2-DT)
NM_005159.5:c.778C>G (ACTC1) MANE Select	NP_005150.1:p.Pro260Ala