Canonical Allele Identifier: CA1080171

Gene: CTSS

Linked Data

• dbSNP Id: rs748179288
• ExAC: 1:150705670 A / G
• gnomAD v2: 1-150705670-A-G
• gnomAD v4: 1-150733194-A-G
• MyVariant Identifiers: chr1:g.150705670A>G (hg19) ; chr1:g.150733194A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150733194A>G , CM000663.2:g.150733194A>G	GRCh38
NC_000001.10:g.150705670A>G , CM000663.1:g.150705670A>G	GRCh37
NC_000001.9:g.148972294A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368985.8:c.897-49T>C MANE Select	ENSP00000357981.3:n.897-49T>C
ENST00000448301.7:c.669-49T>C	ENSP00000408414.2:n.669-49T>C
ENST00000472977.7:c.897-49T>C	ENSP00000475176.2:n.897-49T>C
ENST00000483930.2:c.*91-49T>C	ENSP00000475812.2:n.*91-49T>C
ENST00000607427.2:c.897-49T>C	ENSP00000475557.2:n.897-49T>C
ENST00000679512.1:c.794-49T>C	ENSP00000505113.1:n.794-49T>C
ENST00000679898.1:c.624-49T>C	ENSP00000505326.1:n.624-49T>C
ENST00000680288.1:c.747-49T>C	ENSP00000506001.1:n.747-49T>C
ENST00000680311.1:c.628-49T>C	ENSP00000505020.1:n.628-49T>C
ENST00000680471.1:c.*68-49T>C	ENSP00000506603.1:n.*68-49T>C
ENST00000680664.1:c.720-49T>C	ENSP00000506248.1:n.720-49T>C
ENST00000680931.1:c.*247-49T>C	ENSP00000504934.1:n.*247-49T>C
ENST00000681357.1:n.287-49T>C
ENST00000681444.1:c.897-49T>C	ENSP00000505359.1:n.897-49T>C
ENST00000368985.7:c.897-49T>C	ENSP00000357981.3:n.897-49T>C
ENST00000448301.6:c.747-49T>C	ENSP00000408414.1:n.747-49T>C
ENST00000472977.6:c.190-49T>C
ENST00000483930.1:c.445-49T>C	ENSP00000475812.1:n.445-49T>C
NM_001199739.1:c.747-49T>C	NP_001186668.1:n.747-49T>C
NM_004079.4:c.897-49T>C	NP_004070.3:n.897-49T>C
NM_004079.5:c.897-49T>C MANE Select	NP_004070.3:n.897-49T>C
NM_001199739.2:c.747-49T>C	NP_001186668.1:n.747-49T>C