Canonical Allele Identifier: CA144001

Gene: KCTD1

Linked Data

• ClinVar Variation Id: 55888
• ClinVar RCV Id: RCV000049299
• dbSNP Id: rs587777003
• MyVariant Identifiers: chr18:g.24056603C>T (hg19) ; chr18:g.26476639C>T (hg38)
• PubMed: PMID:10517259 ; PMID:23541344

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.26476639C>T , CM000680.2:g.26476639C>T	GRCh38
NC_000018.9:g.24056603C>T , CM000680.1:g.24056603C>T	GRCh37
NC_000018.8:g.22310601C>T	NCBI36
NG_054919.1:g.185874G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580059.7:c.2009G>A MANE Select	ENSP00000463041.2:p.Gly670Asp
ENST00000317932.11:c.185G>A	ENSP00000314831.7:p.Gly62Asp
ENST00000408011.7:c.185G>A	ENSP00000384367.3:p.Gly62Asp
ENST00000417602.5:c.185G>A	ENSP00000408405.2:p.Gly62Asp
ENST00000577255.1:n.253G>A
ENST00000578973.1:c.165-16714G>A	ENSP00000463608.1:n.165-16714G>A
ENST00000579973.5:c.185G>A	ENSP00000464170.1:p.Gly62Asp
ENST00000580059.5:c.185G>A	ENSP00000463041.1:p.Gly62Asp
ENST00000580191.5:c.209G>A	ENSP00000464261.1:p.Gly70Asp
ENST00000580638.5:c.185G>A	ENSP00000462470.1:p.Gly62Asp
NM_001136205.2:c.185G>A	NP_001129677.1:p.Gly62Asp
NM_001142730.2:c.2009G>A	NP_001136202.1:p.Gly670Asp
NM_001258221.1:c.185G>A	NP_001245150.1:p.Gly62Asp
NM_001258222.1:c.209G>A	NP_001245151.1:p.Gly70Asp
NM_198991.3:c.185G>A	NP_945342.1:p.Gly62Asp
NM_001258222.2:c.209G>A	NP_001245151.1:p.Gly70Asp
NM_001351443.1:c.185G>A	NP_001338372.1:p.Gly62Asp
XR_002958168.1:n.2337-16714G>A
NM_001142730.3:c.2009G>A MANE Select	NP_001136202.1:p.Gly670Asp
NM_001258222.3:c.209G>A	NP_001245151.1:p.Gly70Asp
NM_001258221.2:c.185G>A	NP_001245150.1:p.Gly62Asp
NM_198991.4:c.185G>A	NP_945342.1:p.Gly62Asp