Canonical Allele Identifier: CA303782105

Gene: CTDP1

Linked Data

• ClinVar Variation Id: 2013229
• ClinVar RCV Id: RCV002834512
• dbSNP Id: rs953525649
• MyVariant Identifiers: chr18:g.77455290G>A (hg19) ; chr18:g.79695290G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.79695290G>A , CM000680.2:g.79695290G>A	GRCh38
NC_000018.9:g.77455290G>A , CM000680.1:g.77455290G>A	GRCh37
NC_000018.8:g.75556278G>A	NCBI36
NG_007988.1:g.20490G>A , LRG_236:g.20490G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613122.5:c.380G>A MANE Select	ENSP00000484525.2:p.Cys127Tyr
ENST00000075430.11:c.380G>A	ENSP00000075430.7:p.Cys127Tyr
ENST00000299543.8:c.23G>A	ENSP00000299543.8:p.Cys8Tyr
ENST00000590635.5:c.23G>A	ENSP00000467563.1:p.Cys8Tyr
ENST00000591598.5:c.176G>A	ENSP00000465119.1:p.Cys59Tyr
ENST00000613122.4:c.380G>A	ENSP00000484525.1:p.Cys127Tyr
NM_001202504.1:c.23G>A	NP_001189433.1:p.Cys8Tyr
NM_004715.4:c.380G>A , LRG_236t1:c.380G>A	NP_004706.3:p.Cys127Tyr
NM_048368.3:c.380G>A	NP_430255.2:p.Cys127Tyr
XM_005266782.2:c.380G>A	XP_005266839.1:p.Cys127Tyr
XM_011526261.1:c.380G>A	XP_011524563.1:p.Cys127Tyr
NM_001318511.1:c.380G>A	NP_001305440.1:p.Cys127Tyr
NM_001318511.2:c.380G>A	NP_001305440.1:p.Cys127Tyr
NM_004715.5:c.380G>A MANE Select	NP_004706.3:p.Cys127Tyr
NM_048368.4:c.380G>A	NP_430255.2:p.Cys127Tyr