Canonical Allele Identifier: CA397979950

Gene: CTC1

Linked Data

• gnomAD v4: 17-8232446-A-C
• MyVariant Identifiers: chr17:g.8135764A>C (hg19) ; chr17:g.8232446A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232446A>C , CM000679.2:g.8232446A>C	GRCh38
NC_000017.10:g.8135764A>C , CM000679.1:g.8135764A>C	GRCh37
NC_000017.9:g.8076489A>C	NCBI36
NG_032148.1:g.20650T>G
NG_032148.2:g.20650T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.1975T>G	ENSP00000462607.2:p.Leu659Val
ENST00000581729.2:c.1975T>G	ENSP00000462720.2:p.Leu659Val
ENST00000581967.2:n.2427T>G
ENST00000583254.2:n.2681T>G
ENST00000699849.1:c.1078T>G	ENSP00000514647.1:p.Leu360Val
ENST00000699850.1:n.1238T>G
ENST00000699851.1:n.1997T>G
ENST00000699852.1:c.*651T>G	ENSP00000514648.1:n.*651T>G
ENST00000699853.1:c.1975T>G	ENSP00000514649.1:p.Leu659Val
ENST00000699854.1:n.1768T>G
ENST00000699855.1:n.2427T>G
ENST00000699856.1:c.1975T>G	ENSP00000514650.1:p.Leu659Val
ENST00000699857.1:n.1983T>G
ENST00000699858.1:c.*588T>G	ENSP00000514651.1:n.*588T>G
ENST00000699859.1:c.1846T>G	ENSP00000514652.1:p.Leu616Val
ENST00000699860.1:n.81T>G
ENST00000699861.1:n.1997T>G
ENST00000699862.1:n.2935T>G
ENST00000449476.7:c.1870T>G	ENSP00000396018.2:p.Leu624Val
ENST00000581671.2:n.1964T>G
ENST00000643543.1:c.*682T>G	ENSP00000494323.1:n.*682T>G
ENST00000651323.1:c.1975T>G MANE Select	ENSP00000498499.1:p.Leu659Val
ENST00000315684.12:c.1975T>G	ENSP00000313759.8:p.Leu659Val
ENST00000449476.6:c.1870T>G	ENSP00000396018.2:p.Leu624Val
ENST00000578240.1:n.203T>G
NM_025099.5:c.1975T>G	NP_079375.3:p.Leu659Val
NR_046431.1:n.1929T>G
XM_006721577.2:c.1846T>G	XP_006721640.1:p.Leu616Val
XM_006721578.2:c.1975T>G	XP_006721641.1:p.Leu659Val
XM_006721579.2:c.1975T>G	XP_006721642.1:p.Leu659Val
XM_011524010.1:c.1870T>G	XP_011522312.1:p.Leu624Val
XM_011524011.1:c.1078T>G	XP_011522313.1:p.Leu360Val
XR_429823.2:n.2018T>G
XR_429824.2:n.2018T>G
XR_429825.1:n.2018T>G
NM_025099.6:c.1975T>G MANE Select	NP_079375.3:p.Leu659Val
XM_006721577.3:c.1846T>G	XP_006721640.1:p.Leu616Val
XM_006721578.3:c.1975T>G	XP_006721641.1:p.Leu659Val
XM_011524010.2:c.1870T>G	XP_011522312.1:p.Leu624Val
XM_011524011.2:c.1078T>G	XP_011522313.1:p.Leu360Val
XR_001752639.1:n.1889T>G
XR_001752640.1:n.2018T>G
XR_001752641.1:n.2018T>G
XR_001752642.1:n.2018T>G
XR_001752643.1:n.2448T>G
XR_001752644.1:n.2304T>G
XR_002958073.1:n.2018T>G
XR_429823.3:n.2018T>G
XR_429824.3:n.2018T>G
NR_046431.2:n.1890T>G