Canonical Allele Identifier: CA3708477

Gene: PSORS1C1 CDSN

Linked Data

• ClinVar Variation Id: 716865
• ClinVar RCV Id: RCV000889576 ; RCV003930753
• dbSNP Id: rs148393062
• ExAC: 6:31084856 T / C
• gnomAD v2: 6-31084856-T-C
• gnomAD v3: 6-31117079-T-C
• gnomAD v4: 6-31117079-T-C
• MyVariant Identifiers: chr6:g.31084856T>C (hg19) ; chr6:g.31117079T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117079T>C , CM000668.2:g.31117079T>C	GRCh38
NC_000006.11:g.31084856T>C , CM000668.1:g.31084856T>C	GRCh37
NC_000006.10:g.31192835T>C	NCBI36
NG_012192.1:g.8368A>G
NG_021348.1:g.7249T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2188T>C (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2188T>C
ENST00000376288.3:c.536A>G (CDSN) MANE Select	ENSP00000365465.2:p.Asn179Ser
ENST00000259881.9:c.-229+2188T>C (PSORS1C1)	ENSP00000259881.9:n.-229+2188T>C
ENST00000376288.2:c.536A>G (CDSN)	ENSP00000365465.2:p.Asn179Ser
ENST00000467107.1:n.2086T>C (PSORS1C1)
ENST00000479581.5:n.61+2188T>C (PSORS1C1)
ENST00000493289.1:n.68-11T>C (PSORS1C1)
ENST00000548049.1:n.119+2188T>C (PSORS1C1)
ENST00000550838.1:n.58+2188T>C (PSORS1C1)
ENST00000552747.1:n.53+2188T>C (PSORS1C1)
NM_001264.4:c.536A>G (CDSN)	NP_001255.3:p.Asn179Ser
NM_014068.2:c.-229+2188T>C (PSORS1C1)	NP_054787.2:n.-229+2188T>C
NM_001264.5:c.536A>G (CDSN) MANE Select	NP_001255.4:p.Asn179Ser
NM_014068.3:c.-229+2188T>C (PSORS1C1) MANE Select	NP_054787.2:n.-229+2188T>C