Canonical Allele Identifier: CA397975545

Gene: CTC1

Linked Data

• MyVariant Identifiers: chr17:g.8134648A>G (hg19) ; chr17:g.8231330A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231330A>G , CM000679.2:g.8231330A>G	GRCh38
NC_000017.10:g.8134648A>G , CM000679.1:g.8134648A>G	GRCh37
NC_000017.9:g.8075373A>G	NCBI36
NG_032148.1:g.21766T>C
NG_032148.2:g.21766T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000580299.2:c.2615T>C	ENSP00000462607.2:p.Leu872Pro
ENST00000581729.2:c.2615T>C	ENSP00000462720.2:p.Leu872Pro
ENST00000581967.2:n.3067T>C
ENST00000583254.2:n.3664T>C
ENST00000699849.1:c.1718T>C	ENSP00000514647.1:p.Leu573Pro
ENST00000699850.1:n.1878T>C
ENST00000699851.1:n.2637T>C
ENST00000699852.1:c.*1291T>C	ENSP00000514648.1:n.*1291T>C
ENST00000699853.1:c.2615T>C	ENSP00000514649.1:p.Leu872Pro
ENST00000699854.1:n.2408T>C
ENST00000699855.1:n.3067T>C
ENST00000699856.1:c.2615T>C	ENSP00000514650.1:p.Leu872Pro
ENST00000699857.1:n.2623T>C
ENST00000699858.1:c.*1228T>C	ENSP00000514651.1:n.*1228T>C
ENST00000699859.1:c.2486T>C	ENSP00000514652.1:p.Leu829Pro
ENST00000699860.1:n.581+396T>C
ENST00000699861.1:n.2637T>C
ENST00000699862.1:n.3575T>C
ENST00000449476.7:c.2510T>C	ENSP00000396018.2:p.Leu837Pro
ENST00000581671.2:n.2604T>C
ENST00000643543.1:c.*1322T>C	ENSP00000494323.1:n.*1322T>C
ENST00000651323.1:c.2615T>C MANE Select	ENSP00000498499.1:p.Leu872Pro
ENST00000315684.12:c.2615T>C	ENSP00000313759.8:p.Leu872Pro
ENST00000449476.6:c.2510T>C	ENSP00000396018.2:p.Leu837Pro
ENST00000578240.1:n.843T>C
ENST00000578441.5:n.116T>C
ENST00000578537.1:c.371+396T>C
NM_025099.5:c.2615T>C	NP_079375.3:p.Leu872Pro
NR_046431.1:n.2569T>C
XM_006721577.2:c.2486T>C	XP_006721640.1:p.Leu829Pro
XM_006721578.2:c.2615T>C	XP_006721641.1:p.Leu872Pro
XM_006721579.2:c.2615T>C	XP_006721642.1:p.Leu872Pro
XM_011524010.1:c.2510T>C	XP_011522312.1:p.Leu837Pro
XM_011524011.1:c.1718T>C	XP_011522313.1:p.Leu573Pro
XR_429823.2:n.2658T>C
XR_429824.2:n.2658T>C
XR_429825.1:n.2518+396T>C
NM_025099.6:c.2615T>C MANE Select	NP_079375.3:p.Leu872Pro
XM_006721577.3:c.2486T>C	XP_006721640.1:p.Leu829Pro
XM_006721578.3:c.2615T>C	XP_006721641.1:p.Leu872Pro
XM_011524010.2:c.2510T>C	XP_011522312.1:p.Leu837Pro
XM_011524011.2:c.1718T>C	XP_011522313.1:p.Leu573Pro
XR_001752639.1:n.2529T>C
XR_001752640.1:n.2658T>C
XR_001752641.1:n.2658T>C
XR_001752642.1:n.2518+396T>C
XR_001752643.1:n.3088T>C
XR_002958073.1:n.2518+396T>C
XR_429823.3:n.2658T>C
XR_429824.3:n.2658T>C
NR_046431.2:n.2530T>C