Canonical Allele Identifier: CA3708546

Gene: PSORS1C1 CDSN

Linked Data

• ClinVar Variation Id: 1321061
• ClinVar RCV Id: RCV001777040
• dbSNP Id: rs7742033
• ExAC: 6:31085226 G / A
• gnomAD v2: 6-31085226-G-A
• gnomAD v3: 6-31117449-G-A
• gnomAD v4: 6-31117449-G-A
• MyVariant Identifiers: chr6:g.31085226G>A (hg19) ; chr6:g.31117449G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117449G>A , CM000668.2:g.31117449G>A	GRCh38
NC_000006.11:g.31085226G>A , CM000668.1:g.31085226G>A	GRCh37
NC_000006.10:g.31193205G>A	NCBI36
NG_012192.1:g.7998C>T
NG_021348.1:g.7619G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2558G>A (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2558G>A
ENST00000376288.3:c.166C>T (CDSN) MANE Select	ENSP00000365465.2:p.Leu56Phe
ENST00000259881.9:c.-229+2558G>A (PSORS1C1)	ENSP00000259881.9:n.-229+2558G>A
ENST00000376288.2:c.166C>T (CDSN)	ENSP00000365465.2:p.Leu56Phe
ENST00000467107.1:n.2456G>A (PSORS1C1)
ENST00000479581.5:n.61+2558G>A (PSORS1C1)
ENST00000548049.1:n.119+2558G>A (PSORS1C1)
ENST00000550838.1:n.58+2558G>A (PSORS1C1)
ENST00000552747.1:n.53+2558G>A (PSORS1C1)
NM_001264.4:c.166C>T (CDSN)	NP_001255.3:p.Leu56Phe
NM_014068.2:c.-229+2558G>A (PSORS1C1)	NP_054787.2:n.-229+2558G>A
NM_001264.5:c.166C>T (CDSN) MANE Select	NP_001255.4:p.Leu56Phe
NM_014068.3:c.-229+2558G>A (PSORS1C1) MANE Select	NP_054787.2:n.-229+2558G>A