Canonical Allele Identifier: CA287535382

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8234235A>G , CM000679.2:g.8234235A>G	GRCh38
NC_000017.10:g.8137553A>G , CM000679.1:g.8137553A>G	GRCh37
NC_000017.9:g.8078278A>G	NCBI36
NG_032148.1:g.18861T>C
NG_032148.2:g.18861T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_025099.6:c.1818+220T>C MANE Select	NP_079375.3:n.1818+220T>C
ENST00000651323.1:c.1818+220T>C MANE Select	ENSP00000498499.1:n.1818+220T>C
NM_025099.5:c.1818+220T>C	NP_079375.3:n.1818+220T>C
NR_046431.1:n.1772+220T>C
NR_046431.2:n.1733+220T>C
ENST00000315684.12:c.1818+220T>C	ENSP00000313759.8:n.1818+220T>C
ENST00000449476.6:c.1713+220T>C	ENSP00000396018.2:n.1713+220T>C
ENST00000449476.7:c.1713+220T>C	ENSP00000396018.2:n.1713+220T>C
ENST00000580299.2:c.1818+220T>C	ENSP00000462607.2:n.1818+220T>C
ENST00000581671.2:n.1659+220T>C
ENST00000581729.2:c.1818+220T>C	ENSP00000462720.2:n.1818+220T>C
ENST00000581967.1:n.221+220T>C
ENST00000581967.2:n.1840+220T>C
ENST00000583254.1:n.348+220T>C
ENST00000583254.2:n.2094+220T>C
ENST00000643543.1:c.*431+220T>C	ENSP00000494323.1:n.*431+220T>C
ENST00000699849.1:c.921+220T>C	ENSP00000514647.1:n.921+220T>C
ENST00000699850.1:n.1081+220T>C
ENST00000699851.1:n.1840+220T>C
ENST00000699852.1:c.1818+220T>C	ENSP00000514648.1:n.1818+220T>C
ENST00000699853.1:c.1818+220T>C	ENSP00000514649.1:n.1818+220T>C
ENST00000699854.1:n.1611+220T>C
ENST00000699855.1:n.1840+220T>C
ENST00000699856.1:c.1818+220T>C	ENSP00000514650.1:n.1818+220T>C
ENST00000699857.1:n.1826+220T>C
ENST00000699858.1:c.*431+220T>C	ENSP00000514651.1:n.*431+220T>C
ENST00000699859.1:c.1689+220T>C	ENSP00000514652.1:n.1689+220T>C
ENST00000699861.1:n.1840+220T>C
ENST00000699862.1:n.1924+220T>C
XM_006721577.2:c.1689+220T>C	XP_006721640.1:n.1689+220T>C
XM_006721577.3:c.1689+220T>C	XP_006721640.1:n.1689+220T>C
XM_006721578.2:c.1818+220T>C	XP_006721641.1:n.1818+220T>C
XM_006721578.3:c.1818+220T>C	XP_006721641.1:n.1818+220T>C
XM_006721579.2:c.1818+220T>C	XP_006721642.1:n.1818+220T>C
XM_011524010.1:c.1713+220T>C	XP_011522312.1:n.1713+220T>C
XM_011524010.2:c.1713+220T>C	XP_011522312.1:n.1713+220T>C
XM_011524011.1:c.921+220T>C	XP_011522313.1:n.921+220T>C
XM_011524011.2:c.921+220T>C	XP_011522313.1:n.921+220T>C
XR_001752639.1:n.1732+220T>C
XR_001752640.1:n.1861+220T>C
XR_001752641.1:n.1861+220T>C
XR_001752642.1:n.1861+220T>C
XR_001752643.1:n.1861+220T>C
XR_001752644.1:n.1861+220T>C
XR_002958073.1:n.1861+220T>C
XR_429823.2:n.1861+220T>C
XR_429823.3:n.1861+220T>C
XR_429824.2:n.1861+220T>C
XR_429824.3:n.1861+220T>C
XR_429825.1:n.1861+220T>C