Canonical Allele Identifier: CA1080159

Gene: CTSS

Linked Data

• dbSNP Id: rs760372700
• ExAC: 1:150705573 A / G
• gnomAD v2: 1-150705573-A-G
• gnomAD v4: 1-150733097-A-G
• MyVariant Identifiers: chr1:g.150705573A>G (hg19) ; chr1:g.150733097A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150733097A>G , CM000663.2:g.150733097A>G	GRCh38
NC_000001.10:g.150705573A>G , CM000663.1:g.150705573A>G	GRCh37
NC_000001.9:g.148972197A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368985.8:c.945T>C MANE Select	ENSP00000357981.3:p.Asn315=
ENST00000448301.7:c.717T>C	ENSP00000408414.2:p.Asn239=
ENST00000472977.7:c.945T>C	ENSP00000475176.2:p.Asn315=
ENST00000483930.2:c.*139T>C	ENSP00000475812.2:n.*139T>C
ENST00000607427.2:c.945T>C	ENSP00000475557.2:p.Asn315=
ENST00000679512.1:c.842T>C	ENSP00000505113.1:p.Ile281Thr
ENST00000679898.1:c.672T>C	ENSP00000505326.1:p.Asn224=
ENST00000680288.1:c.795T>C	ENSP00000506001.1:p.Asn265=
ENST00000680311.1:c.*28T>C	ENSP00000505020.1:n.*28T>C
ENST00000680471.1:c.*116T>C	ENSP00000506603.1:n.*116T>C
ENST00000680664.1:c.768T>C	ENSP00000506248.1:p.Asn256=
ENST00000680931.1:c.*295T>C	ENSP00000504934.1:n.*295T>C
ENST00000681357.1:n.335T>C
ENST00000681444.1:c.945T>C	ENSP00000505359.1:p.Asn315=
ENST00000368985.7:c.945T>C	ENSP00000357981.3:p.Asn315=
ENST00000448301.6:c.795T>C	ENSP00000408414.1:p.Asn265=
ENST00000472977.6:c.238T>C
ENST00000483930.1:c.493T>C	ENSP00000475812.1:n.493T>C
NM_001199739.1:c.795T>C	NP_001186668.1:p.Asn265=
NM_004079.4:c.945T>C	NP_004070.3:p.Asn315=
NM_004079.5:c.945T>C MANE Select	NP_004070.3:p.Asn315=
NM_001199739.2:c.795T>C	NP_001186668.1:p.Asn265=