Canonical Allele Identifier: CA342322394

Gene: CTSS

Linked Data

• MyVariant Identifiers: chr1:g.150705570T>G (hg19) ; chr1:g.150733094T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150733094T>G , CM000663.2:g.150733094T>G	GRCh38
NC_000001.10:g.150705570T>G , CM000663.1:g.150705570T>G	GRCh37
NC_000001.9:g.148972194T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368985.8:c.948A>C MANE Select	ENSP00000357981.3:p.Lys316Asn
ENST00000448301.7:c.720A>C	ENSP00000408414.2:p.Lys240Asn
ENST00000472977.7:c.948A>C	ENSP00000475176.2:p.Lys316Asn
ENST00000483930.2:c.*142A>C	ENSP00000475812.2:n.*142A>C
ENST00000607427.2:c.948A>C	ENSP00000475557.2:p.Lys316Asn
ENST00000679512.1:c.845A>C	ENSP00000505113.1:p.Lys282Thr
ENST00000679898.1:c.675A>C	ENSP00000505326.1:p.Lys225Asn
ENST00000680288.1:c.798A>C	ENSP00000506001.1:p.Lys266Asn
ENST00000680311.1:c.*31A>C	ENSP00000505020.1:n.*31A>C
ENST00000680471.1:c.*119A>C	ENSP00000506603.1:n.*119A>C
ENST00000680664.1:c.771A>C	ENSP00000506248.1:p.Lys257Asn
ENST00000680931.1:c.*298A>C	ENSP00000504934.1:n.*298A>C
ENST00000681357.1:n.338A>C
ENST00000681444.1:c.948A>C	ENSP00000505359.1:p.Lys316Asn
ENST00000368985.7:c.948A>C	ENSP00000357981.3:p.Lys316Asn
ENST00000448301.6:c.798A>C	ENSP00000408414.1:p.Lys266Asn
ENST00000472977.6:c.241A>C
ENST00000483930.1:c.496A>C	ENSP00000475812.1:n.496A>C
NM_001199739.1:c.798A>C	NP_001186668.1:p.Lys266Asn
NM_004079.4:c.948A>C	NP_004070.3:p.Lys316Asn
NM_004079.5:c.948A>C MANE Select	NP_004070.3:p.Lys316Asn
NM_001199739.2:c.798A>C	NP_001186668.1:p.Lys266Asn