Canonical Allele Identifier: CA136804288
Gene: PSORS1C1 HGNC NCBI
CDSN HGNC NCBI

Linked Data

dbSNP Id: rs960031486
gnomAD v4: 6-31117109-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31117109T>C , CM000668.2:g.31117109T>C GRCh38
NC_000006.11:g.31084886T>C , CM000668.1:g.31084886T>C GRCh37
NC_000006.10:g.31192865T>C NCBI36
NG_012192.1:g.8338A>G
NG_021348.1:g.7279T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.-229+2218T>C (PSORS1C1) MANE Select ENSP00000259881.9:n.-229+2218T>C
ENST00000376288.3:c.506A>G (CDSN) MANE Select ENSP00000365465.2:p.Gln169Arg
ENST00000259881.9:c.-229+2218T>C (PSORS1C1) ENSP00000259881.9:n.-229+2218T>C
ENST00000376288.2:c.506A>G (CDSN) ENSP00000365465.2:p.Gln169Arg
ENST00000467107.1:n.2116T>C (PSORS1C1)
ENST00000479581.5:n.61+2218T>C (PSORS1C1)
ENST00000493289.1:n.87T>C (PSORS1C1)
ENST00000548049.1:n.119+2218T>C (PSORS1C1)
ENST00000550838.1:n.58+2218T>C (PSORS1C1)
ENST00000552747.1:n.53+2218T>C (PSORS1C1)
NM_001264.4:c.506A>G (CDSN) NP_001255.3:p.Gln169Arg
NM_014068.2:c.-229+2218T>C (PSORS1C1) NP_054787.2:n.-229+2218T>C
NM_001264.5:c.506A>G (CDSN) MANE Select NP_001255.4:p.Gln169Arg
NM_014068.3:c.-229+2218T>C (PSORS1C1) MANE Select NP_054787.2:n.-229+2218T>C