Canonical Allele Identifier: CA981243643

Gene: CTC1

Linked Data

• dbSNP Id: rs1987243818
• gnomAD v3: 17-8231721-C-T
• gnomAD v4: 17-8231721-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231721C>T , CM000679.2:g.8231721C>T	GRCh38
NC_000017.10:g.8135039C>T , CM000679.1:g.8135039C>T	GRCh37
NC_000017.9:g.8075764C>T	NCBI36
NG_032148.1:g.21375G>A
NG_032148.2:g.21375G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2475+5G>A	ENSP00000462607.2:n.2475+5G>A
ENST00000581729.2:c.2475+5G>A	ENSP00000462720.2:n.2475+5G>A
ENST00000581967.2:n.2927+5G>A
ENST00000583254.2:n.3273G>A
ENST00000699849.1:c.1578+5G>A	ENSP00000514647.1:n.1578+5G>A
ENST00000699850.1:n.1738+5G>A
ENST00000699851.1:n.2497+5G>A
ENST00000699852.1:c.*1151+5G>A	ENSP00000514648.1:n.*1151+5G>A
ENST00000699853.1:c.2475+5G>A	ENSP00000514649.1:n.2475+5G>A
ENST00000699854.1:n.2268+5G>A
ENST00000699855.1:n.2927+5G>A
ENST00000699856.1:c.2475+5G>A	ENSP00000514650.1:n.2475+5G>A
ENST00000699857.1:n.2483+5G>A
ENST00000699858.1:c.*1088+5G>A	ENSP00000514651.1:n.*1088+5G>A
ENST00000699859.1:c.2346+5G>A	ENSP00000514652.1:n.2346+5G>A
ENST00000699860.1:n.581+5G>A
ENST00000699861.1:n.2497+5G>A
ENST00000699862.1:n.3435+5G>A
ENST00000449476.7:c.2370+5G>A	ENSP00000396018.2:n.2370+5G>A
ENST00000581671.2:n.2464+5G>A
ENST00000643543.1:c.*1182+5G>A	ENSP00000494323.1:n.*1182+5G>A
ENST00000651323.1:c.2475+5G>A MANE Select	ENSP00000498499.1:n.2475+5G>A
ENST00000315684.12:c.2475+5G>A	ENSP00000313759.8:n.2475+5G>A
ENST00000449476.6:c.2370+5G>A	ENSP00000396018.2:n.2370+5G>A
ENST00000578240.1:n.703+5G>A
ENST00000578537.1:c.371+5G>A
NM_025099.5:c.2475+5G>A	NP_079375.3:n.2475+5G>A
NR_046431.1:n.2429+5G>A
XM_006721577.2:c.2346+5G>A	XP_006721640.1:n.2346+5G>A
XM_006721578.2:c.2475+5G>A	XP_006721641.1:n.2475+5G>A
XM_006721579.2:c.2475+5G>A	XP_006721642.1:n.2475+5G>A
XM_011524010.1:c.2370+5G>A	XP_011522312.1:n.2370+5G>A
XM_011524011.1:c.1578+5G>A	XP_011522313.1:n.1578+5G>A
XR_429823.2:n.2518+5G>A
XR_429824.2:n.2518+5G>A
XR_429825.1:n.2518+5G>A
NM_025099.6:c.2475+5G>A MANE Select	NP_079375.3:n.2475+5G>A
XM_006721577.3:c.2346+5G>A	XP_006721640.1:n.2346+5G>A
XM_006721578.3:c.2475+5G>A	XP_006721641.1:n.2475+5G>A
XM_011524010.2:c.2370+5G>A	XP_011522312.1:n.2370+5G>A
XM_011524011.2:c.1578+5G>A	XP_011522313.1:n.1578+5G>A
XR_001752639.1:n.2389+5G>A
XR_001752640.1:n.2518+5G>A
XR_001752641.1:n.2518+5G>A
XR_001752642.1:n.2518+5G>A
XR_001752643.1:n.2948+5G>A
XR_002958073.1:n.2518+5G>A
XR_429823.3:n.2518+5G>A
XR_429824.3:n.2518+5G>A
NR_046431.2:n.2390+5G>A