Canonical Allele Identifier: CA118589
Gene: PSORS1C1 HGNC NCBI
CDSN HGNC NCBI

Linked Data

ClinVar Variation Id: 6998
ClinVar RCV Id: RCV000007413
dbSNP Id: rs121917820

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31117017G>A , CM000668.2:g.31117017G>A GRCh38
NC_000006.11:g.31084794G>A , CM000668.1:g.31084794G>A GRCh37
NC_000006.10:g.31192773G>A NCBI36
NG_012192.1:g.8430C>T
NG_021348.1:g.7187G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000259881.10:c.-229+2126G>A (PSORS1C1) MANE Select ENSP00000259881.9:n.-229+2126G>A
ENST00000376288.3:c.598C>T (CDSN) MANE Select ENSP00000365465.2:p.Gln200Ter
ENST00000259881.9:c.-229+2126G>A (PSORS1C1) ENSP00000259881.9:n.-229+2126G>A
ENST00000376288.2:c.598C>T (CDSN) ENSP00000365465.2:p.Gln200Ter
ENST00000467107.1:n.2024G>A (PSORS1C1)
ENST00000479581.5:n.61+2126G>A (PSORS1C1)
ENST00000493289.1:n.68-73G>A (PSORS1C1)
ENST00000548049.1:n.119+2126G>A (PSORS1C1)
ENST00000550838.1:n.58+2126G>A (PSORS1C1)
ENST00000552747.1:n.53+2126G>A (PSORS1C1)
NM_001264.4:c.598C>T (CDSN) NP_001255.3:p.Gln200Ter
NM_014068.2:c.-229+2126G>A (PSORS1C1) NP_054787.2:n.-229+2126G>A
NM_001264.5:c.598C>T (CDSN) MANE Select NP_001255.4:p.Gln200Ter
NM_014068.3:c.-229+2126G>A (PSORS1C1) MANE Select NP_054787.2:n.-229+2126G>A