Canonical Allele Identifier: CA2635986461

Gene: CTC1

Linked Data

• gnomAD v4: 17-8232779-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232779A>G , CM000679.2:g.8232779A>G	GRCh38
NC_000017.10:g.8136097A>G , CM000679.1:g.8136097A>G	GRCh37
NC_000017.9:g.8076822A>G	NCBI36
NG_032148.1:g.20317T>C
NG_032148.2:g.20317T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.1945+127T>C	ENSP00000462607.2:n.1945+127T>C
ENST00000581729.2:c.1945+127T>C	ENSP00000462720.2:n.1945+127T>C
ENST00000581967.2:n.2094T>C
ENST00000583254.2:n.2348T>C
ENST00000699849.1:c.1048+127T>C	ENSP00000514647.1:n.1048+127T>C
ENST00000699850.1:n.1208+127T>C
ENST00000699851.1:n.1967+127T>C
ENST00000699852.1:c.*318T>C	ENSP00000514648.1:n.*318T>C
ENST00000699853.1:c.1945+127T>C	ENSP00000514649.1:n.1945+127T>C
ENST00000699854.1:n.1738+127T>C
ENST00000699855.1:n.2094T>C
ENST00000699856.1:c.1945+127T>C	ENSP00000514650.1:n.1945+127T>C
ENST00000699857.1:n.1953+127T>C
ENST00000699858.1:c.*558+127T>C	ENSP00000514651.1:n.*558+127T>C
ENST00000699859.1:c.1816+127T>C	ENSP00000514652.1:n.1816+127T>C
ENST00000699860.1:n.51+127T>C
ENST00000699861.1:n.1967+127T>C
ENST00000699862.1:n.2602T>C
ENST00000449476.7:c.1840+127T>C	ENSP00000396018.2:n.1840+127T>C
ENST00000581671.2:n.1934+127T>C
ENST00000643543.1:c.*652+127T>C	ENSP00000494323.1:n.*652+127T>C
ENST00000651323.1:c.1945+127T>C MANE Select	ENSP00000498499.1:n.1945+127T>C
ENST00000315684.12:c.1945+127T>C	ENSP00000313759.8:n.1945+127T>C
ENST00000449476.6:c.1840+127T>C	ENSP00000396018.2:n.1840+127T>C
ENST00000581967.1:n.475T>C
NM_025099.5:c.1945+127T>C	NP_079375.3:n.1945+127T>C
NR_046431.1:n.1899+127T>C
XM_006721577.2:c.1816+127T>C	XP_006721640.1:n.1816+127T>C
XM_006721578.2:c.1945+127T>C	XP_006721641.1:n.1945+127T>C
XM_006721579.2:c.1945+127T>C	XP_006721642.1:n.1945+127T>C
XM_011524010.1:c.1840+127T>C	XP_011522312.1:n.1840+127T>C
XM_011524011.1:c.1048+127T>C	XP_011522313.1:n.1048+127T>C
XR_429823.2:n.1988+127T>C
XR_429824.2:n.1988+127T>C
XR_429825.1:n.1988+127T>C
NM_025099.6:c.1945+127T>C MANE Select	NP_079375.3:n.1945+127T>C
XM_006721577.3:c.1816+127T>C	XP_006721640.1:n.1816+127T>C
XM_006721578.3:c.1945+127T>C	XP_006721641.1:n.1945+127T>C
XM_011524010.2:c.1840+127T>C	XP_011522312.1:n.1840+127T>C
XM_011524011.2:c.1048+127T>C	XP_011522313.1:n.1048+127T>C
XR_001752639.1:n.1859+127T>C
XR_001752640.1:n.1988+127T>C
XR_001752641.1:n.1988+127T>C
XR_001752642.1:n.1988+127T>C
XR_001752643.1:n.2115T>C
XR_001752644.1:n.2115T>C
XR_002958073.1:n.1988+127T>C
XR_429823.3:n.1988+127T>C
XR_429824.3:n.1988+127T>C
NR_046431.2:n.1860+127T>C