Canonical Allele Identifier: CA8372266
Community Standard Title: NM_025099.6(CTC1):c.1748G>A (p.Ser583Asn)
Gene: CTC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8234525C>T , CM000679.2:g.8234525C>T GRCh38
NC_000017.10:g.8137843C>T , CM000679.1:g.8137843C>T GRCh37
NC_000017.9:g.8078568C>T NCBI36
NG_032148.1:g.18571G>A
NG_032148.2:g.18571G>A

Transcript Alleles

HGVS Amino-acid Change
NM_025099.6:c.1748G>A MANE Select NP_079375.3:p.Ser583Asn
ENST00000651323.1:c.1748G>A MANE Select ENSP00000498499.1:p.Ser583Asn
NM_025099.5:c.1748G>A NP_079375.3:p.Ser583Asn
NR_046431.1:n.1702G>A
NR_046431.2:n.1663G>A
ENST00000315684.12:c.1748G>A ENSP00000313759.8:p.Ser583Asn
ENST00000449476.6:c.1643G>A ENSP00000396018.2:p.Ser548Asn
ENST00000449476.7:c.1643G>A ENSP00000396018.2:p.Ser548Asn
ENST00000580299.2:c.1748G>A ENSP00000462607.2:p.Ser583Asn
ENST00000581671.2:n.1589G>A
ENST00000581729.2:c.1748G>A ENSP00000462720.2:p.Ser583Asn
ENST00000581967.1:n.151G>A
ENST00000581967.2:n.1770G>A
ENST00000583254.1:n.278G>A
ENST00000583254.2:n.2024G>A
ENST00000643543.1:c.*361G>A ENSP00000494323.1:n.*361G>A
ENST00000699849.1:c.851G>A ENSP00000514647.1:p.Ser284Asn
ENST00000699850.1:n.1011G>A
ENST00000699851.1:n.1770G>A
ENST00000699852.1:c.1748G>A ENSP00000514648.1:p.Ser583Asn
ENST00000699853.1:c.1748G>A ENSP00000514649.1:p.Ser583Asn
ENST00000699854.1:n.1541G>A
ENST00000699855.1:n.1770G>A
ENST00000699856.1:c.1748G>A ENSP00000514650.1:p.Ser583Asn
ENST00000699857.1:n.1756G>A
ENST00000699858.1:c.*361G>A ENSP00000514651.1:n.*361G>A
ENST00000699859.1:c.1619G>A ENSP00000514652.1:p.Ser540Asn
ENST00000699861.1:n.1770G>A
ENST00000699862.1:n.1854G>A
XM_006721577.2:c.1619G>A XP_006721640.1:p.Ser540Asn
XM_006721577.3:c.1619G>A XP_006721640.1:p.Ser540Asn
XM_006721578.2:c.1748G>A XP_006721641.1:p.Ser583Asn
XM_006721578.3:c.1748G>A XP_006721641.1:p.Ser583Asn
XM_006721579.2:c.1748G>A XP_006721642.1:p.Ser583Asn
XM_011524010.1:c.1643G>A XP_011522312.1:p.Ser548Asn
XM_011524010.2:c.1643G>A XP_011522312.1:p.Ser548Asn
XM_011524011.1:c.851G>A XP_011522313.1:p.Ser284Asn
XM_011524011.2:c.851G>A XP_011522313.1:p.Ser284Asn
XR_001752639.1:n.1662G>A
XR_001752640.1:n.1791G>A
XR_001752641.1:n.1791G>A
XR_001752642.1:n.1791G>A
XR_001752643.1:n.1791G>A
XR_001752644.1:n.1791G>A
XR_002958073.1:n.1791G>A
XR_429823.2:n.1791G>A
XR_429823.3:n.1791G>A
XR_429824.2:n.1791G>A
XR_429824.3:n.1791G>A
XR_429825.1:n.1791G>A