Canonical Allele Identifier: CA397979715

Gene: CTC1

Linked Data

• MyVariant Identifiers: chr17:g.8135728A>G (hg19) ; chr17:g.8232410A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232410A>G , CM000679.2:g.8232410A>G	GRCh38
NC_000017.10:g.8135728A>G , CM000679.1:g.8135728A>G	GRCh37
NC_000017.9:g.8076453A>G	NCBI36
NG_032148.1:g.20686T>C
NG_032148.2:g.20686T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2011T>C	ENSP00000462607.2:p.Ser671Pro
ENST00000581729.2:c.2011T>C	ENSP00000462720.2:p.Ser671Pro
ENST00000581967.2:n.2463T>C
ENST00000583254.2:n.2717T>C
ENST00000699849.1:c.1114T>C	ENSP00000514647.1:p.Ser372Pro
ENST00000699850.1:n.1274T>C
ENST00000699851.1:n.2033T>C
ENST00000699852.1:c.*687T>C	ENSP00000514648.1:n.*687T>C
ENST00000699853.1:c.2011T>C	ENSP00000514649.1:p.Ser671Pro
ENST00000699854.1:n.1804T>C
ENST00000699855.1:n.2463T>C
ENST00000699856.1:c.2011T>C	ENSP00000514650.1:p.Ser671Pro
ENST00000699857.1:n.2019T>C
ENST00000699858.1:c.*624T>C	ENSP00000514651.1:n.*624T>C
ENST00000699859.1:c.1882T>C	ENSP00000514652.1:p.Ser628Pro
ENST00000699860.1:n.117T>C
ENST00000699861.1:n.2033T>C
ENST00000699862.1:n.2971T>C
ENST00000449476.7:c.1906T>C	ENSP00000396018.2:p.Ser636Pro
ENST00000581671.2:n.2000T>C
ENST00000643543.1:c.*718T>C	ENSP00000494323.1:n.*718T>C
ENST00000651323.1:c.2011T>C MANE Select	ENSP00000498499.1:p.Ser671Pro
ENST00000315684.12:c.2011T>C	ENSP00000313759.8:p.Ser671Pro
ENST00000449476.6:c.1906T>C	ENSP00000396018.2:p.Ser636Pro
ENST00000578240.1:n.239T>C
NM_025099.5:c.2011T>C	NP_079375.3:p.Ser671Pro
NR_046431.1:n.1965T>C
XM_006721577.2:c.1882T>C	XP_006721640.1:p.Ser628Pro
XM_006721578.2:c.2011T>C	XP_006721641.1:p.Ser671Pro
XM_006721579.2:c.2011T>C	XP_006721642.1:p.Ser671Pro
XM_011524010.1:c.1906T>C	XP_011522312.1:p.Ser636Pro
XM_011524011.1:c.1114T>C	XP_011522313.1:p.Ser372Pro
XR_429823.2:n.2054T>C
XR_429824.2:n.2054T>C
XR_429825.1:n.2054T>C
NM_025099.6:c.2011T>C MANE Select	NP_079375.3:p.Ser671Pro
XM_006721577.3:c.1882T>C	XP_006721640.1:p.Ser628Pro
XM_006721578.3:c.2011T>C	XP_006721641.1:p.Ser671Pro
XM_011524010.2:c.1906T>C	XP_011522312.1:p.Ser636Pro
XM_011524011.2:c.1114T>C	XP_011522313.1:p.Ser372Pro
XR_001752639.1:n.1925T>C
XR_001752640.1:n.2054T>C
XR_001752641.1:n.2054T>C
XR_001752642.1:n.2054T>C
XR_001752643.1:n.2484T>C
XR_002958073.1:n.2054T>C
XR_429823.3:n.2054T>C
XR_429824.3:n.2054T>C
NR_046431.2:n.1926T>C