Canonical Allele Identifier: CA397991758

Gene: CTC1

Linked Data

• dbSNP Id: rs767816792
• gnomAD v3: 17-8237466-C-G
• gnomAD v4: 17-8237466-C-G
• MyVariant Identifiers: chr17:g.8140784C>G (hg19) ; chr17:g.8237466C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8237466C>G , CM000679.2:g.8237466C>G	GRCh38
NC_000017.10:g.8140784C>G , CM000679.1:g.8140784C>G	GRCh37
NC_000017.9:g.8081509C>G	NCBI36
NG_032148.1:g.15630G>C
NG_032148.2:g.15630G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.701G>C	ENSP00000462607.2:p.Ser234Thr
ENST00000581729.2:c.701G>C	ENSP00000462720.2:p.Ser234Thr
ENST00000581967.2:n.723G>C
ENST00000583254.2:n.115G>C
ENST00000699849.1:c.-197G>C	ENSP00000514647.1:n.-197G>C
ENST00000699850.1:n.56-1124G>C
ENST00000699851.1:n.723G>C
ENST00000699852.1:c.701G>C	ENSP00000514648.1:p.Ser234Thr
ENST00000699853.1:c.701G>C	ENSP00000514649.1:p.Ser234Thr
ENST00000699854.1:n.494G>C
ENST00000699855.1:n.723G>C
ENST00000699856.1:c.701G>C	ENSP00000514650.1:p.Ser234Thr
ENST00000699857.1:n.709G>C
ENST00000699858.1:c.701G>C	ENSP00000514651.1:p.Ser234Thr
ENST00000699859.1:c.701G>C	ENSP00000514652.1:p.Ser234Thr
ENST00000699861.1:n.723G>C
ENST00000699862.1:n.588G>C
ENST00000449476.7:c.648-52G>C	ENSP00000396018.2:n.648-52G>C
ENST00000581671.2:n.542G>C
ENST00000643543.1:c.701G>C	ENSP00000494323.1:p.Ser234Thr
ENST00000651323.1:c.701G>C MANE Select	ENSP00000498499.1:p.Ser234Thr
ENST00000315684.12:c.701G>C	ENSP00000313759.8:p.Ser234Thr
ENST00000449476.6:c.648-52G>C	ENSP00000396018.2:n.648-52G>C
ENST00000581671.1:n.542G>C
NM_025099.5:c.701G>C	NP_079375.3:p.Ser234Thr
NR_046431.1:n.707-52G>C
XM_006721577.2:c.701G>C	XP_006721640.1:p.Ser234Thr
XM_006721578.2:c.701G>C	XP_006721641.1:p.Ser234Thr
XM_006721579.2:c.701G>C	XP_006721642.1:p.Ser234Thr
XM_011524010.1:c.648-52G>C	XP_011522312.1:n.648-52G>C
XM_011524011.1:c.-201G>C	XP_011522313.1:n.-201G>C
XR_429823.2:n.744G>C
XR_429824.2:n.744G>C
XR_429825.1:n.744G>C
NM_025099.6:c.701G>C MANE Select	NP_079375.3:p.Ser234Thr
XM_006721577.3:c.701G>C	XP_006721640.1:p.Ser234Thr
XM_006721578.3:c.701G>C	XP_006721641.1:p.Ser234Thr
XM_011524010.2:c.648-52G>C	XP_011522312.1:n.648-52G>C
XM_011524011.2:c.-201G>C	XP_011522313.1:n.-201G>C
XR_001752639.1:n.744G>C
XR_001752640.1:n.744G>C
XR_001752641.1:n.744G>C
XR_001752642.1:n.744G>C
XR_001752643.1:n.744G>C
XR_001752644.1:n.744G>C
XR_002958073.1:n.744G>C
XR_429823.3:n.744G>C
XR_429824.3:n.744G>C
NR_046431.2:n.668-52G>C