Canonical Allele Identifier: CA9010702

Gene: CTDP1

Linked Data

• ClinVar Variation Id: 1601381
• ClinVar RCV Id: RCV002125094
• dbSNP Id: rs140538707
• ExAC: 18:77513648 G / T
• gnomAD v2: 18-77513648-G-T
• gnomAD v3: 18-79753648-G-T
• gnomAD v4: 18-79753648-G-T
• MyVariant Identifiers: chr18:g.77513648G>T (hg19) ; chr18:g.79753648G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.79753648G>T , CM000680.2:g.79753648G>T	GRCh38
NC_000018.9:g.77513648G>T , CM000680.1:g.77513648G>T	GRCh37
NC_000018.8:g.75614636G>T	NCBI36
NG_007988.1:g.78848G>T , LRG_236:g.78848G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299543.9:c.1040-4G>T
ENST00000590599.2:n.1822-4G>T
ENST00000613122.5:c.2748-4G>T MANE Select	ENSP00000484525.2:n.2748-4G>T
ENST00000075430.11:c.2585-4G>T	ENSP00000075430.7:n.2585-4G>T
ENST00000299543.8:c.2391-4G>T	ENSP00000299543.8:n.2391-4G>T
ENST00000590599.1:n.913-4G>T
ENST00000591598.5:c.2377-4G>T	ENSP00000465119.1:n.2377-4G>T
ENST00000613122.4:c.2748-4G>T	ENSP00000484525.1:n.2748-4G>T
NM_001202504.1:c.2391-4G>T	NP_001189433.1:n.2391-4G>T
NM_004715.4:c.2748-4G>T , LRG_236t1:c.2748-4G>T	NP_004706.3:n.2748-4G>T
NM_048368.3:c.2585-4G>T	NP_430255.2:n.2585-4G>T
XM_005266782.2:c.2581-4G>T	XP_005266839.1:n.2581-4G>T
XM_011526261.1:c.2418-4G>T	XP_011524563.1:n.2418-4G>T
NM_001318511.1:c.2581-4G>T	NP_001305440.1:n.2581-4G>T
XM_017026078.1:c.2193-4G>T	XP_016881567.1:n.2193-4G>T
NM_001318511.2:c.2581-4G>T	NP_001305440.1:n.2581-4G>T
NM_004715.5:c.2748-4G>T MANE Select	NP_004706.3:n.2748-4G>T
NM_048368.4:c.2585-4G>T	NP_430255.2:n.2585-4G>T