Canonical Allele Identifier: CA3708530

Gene: PSORS1C1 CDSN

Linked Data

• ClinVar Variation Id: 711440
• ClinVar RCV Id: RCV000883203
• dbSNP Id: rs75843924
• ExAC: 6:31085136 C / T
• gnomAD v2: 6-31085136-C-T
• gnomAD v3: 6-31117359-C-T
• gnomAD v4: 6-31117359-C-T
• MyVariant Identifiers: chr6:g.31085136C>T (hg19) ; chr6:g.31117359C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117359C>T , CM000668.2:g.31117359C>T	GRCh38
NC_000006.11:g.31085136C>T , CM000668.1:g.31085136C>T	GRCh37
NC_000006.10:g.31193115C>T	NCBI36
NG_012192.1:g.8088G>A
NG_021348.1:g.7529C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000259881.10:c.-229+2468C>T (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2468C>T
ENST00000376288.3:c.256G>A (CDSN) MANE Select	ENSP00000365465.2:p.Gly86Ser
ENST00000259881.9:c.-229+2468C>T (PSORS1C1)	ENSP00000259881.9:n.-229+2468C>T
ENST00000376288.2:c.256G>A (CDSN)	ENSP00000365465.2:p.Gly86Ser
ENST00000467107.1:n.2366C>T (PSORS1C1)
ENST00000479581.5:n.61+2468C>T (PSORS1C1)
ENST00000548049.1:n.119+2468C>T (PSORS1C1)
ENST00000550838.1:n.58+2468C>T (PSORS1C1)
ENST00000552747.1:n.53+2468C>T (PSORS1C1)
NM_001264.4:c.256G>A (CDSN)	NP_001255.3:p.Gly86Ser
NM_014068.2:c.-229+2468C>T (PSORS1C1)	NP_054787.2:n.-229+2468C>T
NM_001264.5:c.256G>A (CDSN) MANE Select	NP_001255.4:p.Gly86Ser
NM_014068.3:c.-229+2468C>T (PSORS1C1) MANE Select	NP_054787.2:n.-229+2468C>T