Canonical Allele Identifier: CA170973
Gene: PSORS1C1 HGNC NCBI
CDSN HGNC NCBI

Linked Data

ClinVar Variation Id: 157565
ClinVar RCV Id: RCV000144909
dbSNP Id: rs606231275
MyVariant Identifiers: chr6:g.31084968C>A (hg19) chr6:g.31117191C>A (hg38)
PubMed: PMID:2434123 PMID:23957618
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31117191C>A , CM000668.2:g.31117191C>A GRCh38
NC_000006.11:g.31084968C>A , CM000668.1:g.31084968C>A GRCh37
NC_000006.10:g.31192947C>A NCBI36
NG_012192.1:g.8256G>T
NG_021348.1:g.7361C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000259881.10:c.-229+2300C>A (PSORS1C1) MANE Select ENSP00000259881.9:n.-229+2300C>A
ENST00000376288.3:c.424G>T (CDSN) MANE Select ENSP00000365465.2:p.Gly142Ter
ENST00000259881.9:c.-229+2300C>A (PSORS1C1) ENSP00000259881.9:n.-229+2300C>A
ENST00000376288.2:c.424G>T (CDSN) ENSP00000365465.2:p.Gly142Ter
ENST00000467107.1:n.2198C>A (PSORS1C1)
ENST00000479581.5:n.61+2300C>A (PSORS1C1)
ENST00000493289.1:n.169C>A (PSORS1C1)
ENST00000548049.1:n.119+2300C>A (PSORS1C1)
ENST00000550838.1:n.58+2300C>A (PSORS1C1)
ENST00000552747.1:n.53+2300C>A (PSORS1C1)
NM_001264.4:c.424G>T (CDSN) NP_001255.3:p.Gly142Ter
NM_014068.2:c.-229+2300C>A (PSORS1C1) NP_054787.2:n.-229+2300C>A
NM_001264.5:c.424G>T (CDSN) MANE Select NP_001255.4:p.Gly142Ter
NM_014068.3:c.-229+2300C>A (PSORS1C1) MANE Select NP_054787.2:n.-229+2300C>A
Search 100 bp 5'
Search 100 bp 3'