Canonical Allele Identifier: CA8372189

Gene: CTC1

Linked Data

• dbSNP Id: rs768309786
• ExAC: 17:8135646 G / C
• gnomAD v2: 17-8135646-G-C
• MyVariant Identifiers: chr17:g.8135646G>C (hg19) ; chr17:g.8232328G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232328G>C , CM000679.2:g.8232328G>C	GRCh38
NC_000017.10:g.8135646G>C , CM000679.1:g.8135646G>C	GRCh37
NC_000017.9:g.8076371G>C	NCBI36
NG_032148.1:g.20768C>G
NG_032148.2:g.20768C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2060+33C>G	ENSP00000462607.2:n.2060+33C>G
ENST00000581729.2:c.2060+33C>G	ENSP00000462720.2:n.2060+33C>G
ENST00000581967.2:n.2512+33C>G
ENST00000583254.2:n.2766+33C>G
ENST00000699849.1:c.1163+33C>G	ENSP00000514647.1:n.1163+33C>G
ENST00000699850.1:n.1323+33C>G
ENST00000699851.1:n.2082+33C>G
ENST00000699852.1:c.*736+33C>G	ENSP00000514648.1:n.*736+33C>G
ENST00000699853.1:c.2060+33C>G	ENSP00000514649.1:n.2060+33C>G
ENST00000699854.1:n.1853+33C>G
ENST00000699855.1:n.2512+33C>G
ENST00000699856.1:c.2060+33C>G	ENSP00000514650.1:n.2060+33C>G
ENST00000699857.1:n.2068+33C>G
ENST00000699858.1:c.*673+33C>G	ENSP00000514651.1:n.*673+33C>G
ENST00000699859.1:c.1931+33C>G	ENSP00000514652.1:n.1931+33C>G
ENST00000699860.1:n.166+33C>G
ENST00000699861.1:n.2082+33C>G
ENST00000699862.1:n.3020+33C>G
ENST00000449476.7:c.1955+33C>G	ENSP00000396018.2:n.1955+33C>G
ENST00000581671.2:n.2049+33C>G
ENST00000643543.1:c.*767+33C>G	ENSP00000494323.1:n.*767+33C>G
ENST00000651323.1:c.2060+33C>G MANE Select	ENSP00000498499.1:n.2060+33C>G
ENST00000315684.12:c.2060+33C>G	ENSP00000313759.8:n.2060+33C>G
ENST00000449476.6:c.1955+33C>G	ENSP00000396018.2:n.1955+33C>G
ENST00000578240.1:n.288+33C>G
NM_025099.5:c.2060+33C>G	NP_079375.3:n.2060+33C>G
NR_046431.1:n.2014+33C>G
XM_006721577.2:c.1931+33C>G	XP_006721640.1:n.1931+33C>G
XM_006721578.2:c.2060+33C>G	XP_006721641.1:n.2060+33C>G
XM_006721579.2:c.2060+33C>G	XP_006721642.1:n.2060+33C>G
XM_011524010.1:c.1955+33C>G	XP_011522312.1:n.1955+33C>G
XM_011524011.1:c.1163+33C>G	XP_011522313.1:n.1163+33C>G
XR_429823.2:n.2103+33C>G
XR_429824.2:n.2103+33C>G
XR_429825.1:n.2103+33C>G
NM_025099.6:c.2060+33C>G MANE Select	NP_079375.3:n.2060+33C>G
XM_006721577.3:c.1931+33C>G	XP_006721640.1:n.1931+33C>G
XM_006721578.3:c.2060+33C>G	XP_006721641.1:n.2060+33C>G
XM_011524010.2:c.1955+33C>G	XP_011522312.1:n.1955+33C>G
XM_011524011.2:c.1163+33C>G	XP_011522313.1:n.1163+33C>G
XR_001752639.1:n.1974+33C>G
XR_001752640.1:n.2103+33C>G
XR_001752641.1:n.2103+33C>G
XR_001752642.1:n.2103+33C>G
XR_001752643.1:n.2533+33C>G
XR_002958073.1:n.2103+33C>G
XR_429823.3:n.2103+33C>G
XR_429824.3:n.2103+33C>G
NR_046431.2:n.1975+33C>G