Canonical Allele Identifier: CA136804194

Gene: PSORS1C1 CDSN

Linked Data

• dbSNP Id: rs925332231
• gnomAD v2: 6-31084833-G-T
• gnomAD v4: 6-31117056-G-T
• MyVariant Identifiers: chr6:g.31084833G>T (hg19) ; chr6:g.31117056G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117056G>T , CM000668.2:g.31117056G>T	GRCh38
NC_000006.11:g.31084833G>T , CM000668.1:g.31084833G>T	GRCh37
NC_000006.10:g.31192812G>T	NCBI36
NG_012192.1:g.8391C>A
NG_021348.1:g.7226G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2165G>T (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2165G>T
ENST00000376288.3:c.559C>A (CDSN) MANE Select	ENSP00000365465.2:p.Leu187Ile
ENST00000259881.9:c.-229+2165G>T (PSORS1C1)	ENSP00000259881.9:n.-229+2165G>T
ENST00000376288.2:c.559C>A (CDSN)	ENSP00000365465.2:p.Leu187Ile
ENST00000467107.1:n.2063G>T (PSORS1C1)
ENST00000479581.5:n.61+2165G>T (PSORS1C1)
ENST00000493289.1:n.68-34G>T (PSORS1C1)
ENST00000548049.1:n.119+2165G>T (PSORS1C1)
ENST00000550838.1:n.58+2165G>T (PSORS1C1)
ENST00000552747.1:n.53+2165G>T (PSORS1C1)
NM_001264.4:c.559C>A (CDSN)	NP_001255.3:p.Leu187Ile
NM_014068.2:c.-229+2165G>T (PSORS1C1)	NP_054787.2:n.-229+2165G>T
NM_001264.5:c.559C>A (CDSN) MANE Select	NP_001255.4:p.Leu187Ile
NM_014068.3:c.-229+2165G>T (PSORS1C1) MANE Select	NP_054787.2:n.-229+2165G>T