Canonical Allele Identifier: CA8372756
Community Standard Title: NM_025099.6(CTC1):c.24C>A (p.Val8=)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8248013G>T , CM000679.2:g.8248013G>T GRCh38
NC_000017.10:g.8151331G>T , CM000679.1:g.8151331G>T GRCh37
NC_000017.9:g.8092056G>T NCBI36
NG_032148.1:g.5083C>A
NG_032148.2:g.5083C>A

Transcript Alleles

HGVS Amino-acid Change
NM_025099.6:c.24C>A (CTC1) MANE Select NP_079375.3:p.Val8=
ENST00000651323.1:c.24C>A (CTC1) MANE Select ENSP00000498499.1:p.Val8=
NM_025099.5:c.24C>A (CTC1) NP_079375.3:p.Val8=
NR_046431.1:n.83C>A (CTC1)
NR_046431.2:n.44C>A (CTC1)
ENST00000315684.12:c.24C>A (CTC1) ENSP00000313759.8:p.Val8=
ENST00000449476.6:c.24C>A (CTC1) ENSP00000396018.2:p.Val8=
ENST00000449476.7:c.24C>A (CTC1) ENSP00000396018.2:p.Val8=
ENST00000580299.2:c.24C>A (CTC1) ENSP00000462607.2:p.Val8=
ENST00000581671.1:n.29C>A (CTC1)
ENST00000581671.2:n.29C>A (CTC1)
ENST00000581729.2:c.24C>A (CTC1) ENSP00000462720.2:p.Val8=
ENST00000581967.2:n.46C>A (CTC1)
ENST00000585183.5:c.-80+157G>T (PFAS) ENSP00000463362.1:n.-80+157G>T
ENST00000643543.1:c.24C>A (CTC1) ENSP00000494323.1:p.Val8=
ENST00000699849.1:c.-710C>A (CTC1) ENSP00000514647.1:n.-710C>A
ENST00000699850.1:n.46C>A (CTC1)
ENST00000699851.1:n.46C>A (CTC1)
ENST00000699852.1:c.24C>A (CTC1) ENSP00000514648.1:p.Val8=
ENST00000699853.1:c.24C>A (CTC1) ENSP00000514649.1:p.Val8=
ENST00000699854.1:n.32C>A (CTC1)
ENST00000699855.1:n.46C>A (CTC1)
ENST00000699856.1:c.24C>A (CTC1) ENSP00000514650.1:p.Val8=
ENST00000699857.1:n.32C>A (CTC1)
ENST00000699858.1:c.24C>A (CTC1) ENSP00000514651.1:p.Val8=
ENST00000699859.1:c.24C>A (CTC1) ENSP00000514652.1:p.Val8=
ENST00000699861.1:n.46C>A (CTC1)
XM_006721577.2:c.24C>A (CTC1) XP_006721640.1:p.Val8=
XM_006721577.3:c.24C>A (CTC1) XP_006721640.1:p.Val8=
XM_006721578.2:c.24C>A (CTC1) XP_006721641.1:p.Val8=
XM_006721578.3:c.24C>A (CTC1) XP_006721641.1:p.Val8=
XM_006721579.2:c.24C>A (CTC1) XP_006721642.1:p.Val8=
XM_011524010.1:c.24C>A (CTC1) XP_011522312.1:p.Val8=
XM_011524010.2:c.24C>A (CTC1) XP_011522312.1:p.Val8=
XM_011524011.1:c.-666C>A (CTC1) XP_011522313.1:n.-666C>A
XM_011524011.2:c.-666C>A (CTC1) XP_011522313.1:n.-666C>A
XM_024450804.1:c.-80+157G>T (PFAS) XP_024306572.1:n.-80+157G>T
XR_001752639.1:n.67C>A (CTC1)
XR_001752640.1:n.67C>A (CTC1)
XR_001752641.1:n.67C>A (CTC1)
XR_001752642.1:n.67C>A (CTC1)
XR_001752643.1:n.67C>A (CTC1)
XR_001752644.1:n.67C>A (CTC1)
XR_002958073.1:n.67C>A (CTC1)
XR_429823.2:n.67C>A (CTC1)
XR_429823.3:n.67C>A (CTC1)
XR_429824.2:n.67C>A (CTC1)
XR_429824.3:n.67C>A (CTC1)
XR_429825.1:n.67C>A (CTC1)