Canonical Allele Identifier: CA497782501

Gene: CTC1

Linked Data

• dbSNP Id: rs1242276231
• gnomAD v4: 17-8237420-A-G
• MyVariant Identifiers: chr17:g.8140738A>G (hg19) ; chr17:g.8237420A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8237420A>G , CM000679.2:g.8237420A>G	GRCh38
NC_000017.10:g.8140738A>G , CM000679.1:g.8140738A>G	GRCh37
NC_000017.9:g.8081463A>G	NCBI36
NG_032148.1:g.15676T>C
NG_032148.2:g.15676T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.747T>C	ENSP00000462607.2:p.Leu249=
ENST00000581729.2:c.747T>C	ENSP00000462720.2:p.Leu249=
ENST00000581967.2:n.769T>C
ENST00000583254.2:n.161T>C
ENST00000699849.1:c.-151T>C	ENSP00000514647.1:n.-151T>C
ENST00000699850.1:n.56-1078T>C
ENST00000699851.1:n.769T>C
ENST00000699852.1:c.747T>C	ENSP00000514648.1:p.Leu249=
ENST00000699853.1:c.747T>C	ENSP00000514649.1:p.Leu249=
ENST00000699854.1:n.540T>C
ENST00000699855.1:n.769T>C
ENST00000699856.1:c.747T>C	ENSP00000514650.1:p.Leu249=
ENST00000699857.1:n.755T>C
ENST00000699858.1:c.747T>C	ENSP00000514651.1:p.Leu249=
ENST00000699859.1:c.747T>C	ENSP00000514652.1:p.Leu249=
ENST00000699861.1:n.769T>C
ENST00000699862.1:n.634T>C
ENST00000449476.7:c.648-6T>C	ENSP00000396018.2:n.648-6T>C
ENST00000581671.2:n.588T>C
ENST00000643543.1:c.747T>C	ENSP00000494323.1:p.Leu249=
ENST00000651323.1:c.747T>C MANE Select	ENSP00000498499.1:p.Leu249=
ENST00000315684.12:c.747T>C	ENSP00000313759.8:p.Leu249=
ENST00000449476.6:c.648-6T>C	ENSP00000396018.2:n.648-6T>C
ENST00000581671.1:n.588T>C
NM_025099.5:c.747T>C	NP_079375.3:p.Leu249=
NR_046431.1:n.707-6T>C
XM_006721577.2:c.747T>C	XP_006721640.1:p.Leu249=
XM_006721578.2:c.747T>C	XP_006721641.1:p.Leu249=
XM_006721579.2:c.747T>C	XP_006721642.1:p.Leu249=
XM_011524010.1:c.648-6T>C	XP_011522312.1:n.648-6T>C
XM_011524011.1:c.-155T>C	XP_011522313.1:n.-155T>C
XR_429823.2:n.790T>C
XR_429824.2:n.790T>C
XR_429825.1:n.790T>C
NM_025099.6:c.747T>C MANE Select	NP_079375.3:p.Leu249=
XM_006721577.3:c.747T>C	XP_006721640.1:p.Leu249=
XM_006721578.3:c.747T>C	XP_006721641.1:p.Leu249=
XM_011524010.2:c.648-6T>C	XP_011522312.1:n.648-6T>C
XM_011524011.2:c.-155T>C	XP_011522313.1:n.-155T>C
XR_001752639.1:n.790T>C
XR_001752640.1:n.790T>C
XR_001752641.1:n.790T>C
XR_001752642.1:n.790T>C
XR_001752643.1:n.790T>C
XR_001752644.1:n.790T>C
XR_002958073.1:n.790T>C
XR_429823.3:n.790T>C
XR_429824.3:n.790T>C
NR_046431.2:n.668-6T>C