Canonical Allele Identifier: CA340394

Gene: CTDP1

Linked Data

• ClinVar Variation Id: 5301
• ClinVar RCV Id: RCV000005622 ; RCV000789083 ; RCV001092097
• dbSNP Id: rs113994102
• MyVariant Identifiers: chr18:g.77470825C>T (hg19) ; chr18:g.79710825C>T (hg38)
• PubMed: PMID:14517542 ; PMID:15322984 ; PMID:20301787

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.79710825C>T , CM000680.2:g.79710825C>T	GRCh38
NC_000018.9:g.77470825C>T , CM000680.1:g.77470825C>T	GRCh37
NC_000018.8:g.75571813C>T	NCBI36
NG_007988.1:g.36025C>T , LRG_236:g.36025C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613122.5:c.863+389C>T MANE Select	ENSP00000484525.2:n.863+389C>T
ENST00000075430.11:c.863+389C>T	ENSP00000075430.7:n.863+389C>T
ENST00000299543.8:c.506+389C>T	ENSP00000299543.8:n.506+389C>T
ENST00000591598.5:c.659+389C>T	ENSP00000465119.1:n.659+389C>T
ENST00000613122.4:c.863+389C>T	ENSP00000484525.1:n.863+389C>T
NM_001202504.1:c.506+389C>T	NP_001189433.1:n.506+389C>T
NM_004715.4:c.863+389C>T , LRG_236t1:c.863+389C>T	NP_004706.3:n.863+389C>T
NM_048368.3:c.863+389C>T	NP_430255.2:n.863+389C>T
XM_005266782.2:c.863+389C>T	XP_005266839.1:n.863+389C>T
XM_011526261.1:c.863+389C>T	XP_011524563.1:n.863+389C>T
NM_001318511.1:c.863+389C>T	NP_001305440.1:n.863+389C>T
XM_017026078.1:c.308+389C>T	XP_016881567.1:n.308+389C>T
NM_001318511.2:c.863+389C>T	NP_001305440.1:n.863+389C>T
NM_004715.5:c.863+389C>T MANE Select	NP_004706.3:n.863+389C>T
NM_048368.4:c.863+389C>T	NP_430255.2:n.863+389C>T