Canonical Allele Identifier: CA420696562
Gene: CTSS HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.150705564A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150733088A>G , CM000663.2:g.150733088A>G GRCh38
NC_000001.10:g.150705564A>G , CM000663.1:g.150705564A>G GRCh37
NC_000001.9:g.148972188A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368985.8:c.954T>C MANE Select ENSP00000357981.3:p.Asn318=
ENST00000448301.7:c.726T>C ENSP00000408414.2:p.Asn242=
ENST00000472977.7:c.954T>C ENSP00000475176.2:p.Asn318=
ENST00000483930.2:c.*148T>C ENSP00000475812.2:n.*148T>C
ENST00000607427.2:c.954T>C ENSP00000475557.2:p.Asn318=
ENST00000679512.1:c.851T>C ENSP00000505113.1:p.Ile284Thr
ENST00000679898.1:c.681T>C ENSP00000505326.1:p.Asn227=
ENST00000680288.1:c.804T>C ENSP00000506001.1:p.Asn268=
ENST00000680311.1:c.*37T>C ENSP00000505020.1:n.*37T>C
ENST00000680471.1:c.*125T>C ENSP00000506603.1:n.*125T>C
ENST00000680664.1:c.777T>C ENSP00000506248.1:p.Asn259=
ENST00000680931.1:c.*304T>C ENSP00000504934.1:n.*304T>C
ENST00000681357.1:n.344T>C
ENST00000681444.1:c.954T>C ENSP00000505359.1:p.Asn318=
ENST00000368985.7:c.954T>C ENSP00000357981.3:p.Asn318=
ENST00000448301.6:c.804T>C ENSP00000408414.1:p.Asn268=
ENST00000472977.6:c.247T>C
ENST00000483930.1:c.502T>C ENSP00000475812.1:n.502T>C
NM_001199739.1:c.804T>C NP_001186668.1:p.Asn268=
NM_004079.4:c.954T>C NP_004070.3:p.Asn318=
NM_004079.5:c.954T>C MANE Select NP_004070.3:p.Asn318=
NM_001199739.2:c.804T>C NP_001186668.1:p.Asn268=