Canonical Allele Identifier: CA3708583
Gene: PSORS1C1 HGNC NCBI
CDSN HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.31120368T>A
GRCh37 chr6:g.31088145T>A
Revel Score:
ENST00000376288 (MANE Select) 0.065
gnomAD v2:
6:31088145 T / A
gnomAD v3:
6:31120368 T / A
gnomAD v4:
chr6-31120368-T-A
Joint Max Group AF 0.24753579 (NFE)
Genomes Max Group AF 0.21540234 (NFE)
Exomes Max Group AF 0.2493555 (NFE)
ClinVar RCV:
RCV001648848
ClinVar Variation:
1244640
dbSNP:
3095318
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31120368T>A , CM000668.2:g.31120368T>A GRCh38
NC_000006.11:g.31088145T>A , CM000668.1:g.31088145T>A GRCh37
NC_000006.10:g.31196124T>A NCBI36
NG_012192.1:g.5079A>T
NG_021348.1:g.10538T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.-228-5308T>A (PSORS1C1) MANE Select ENSP00000259881.9:n.-228-5308T>A
ENST00000376288.3:c.52A>T (CDSN) MANE Select ENSP00000365465.2:p.Met18Leu
ENST00000259881.9:c.-228-5308T>A (PSORS1C1) ENSP00000259881.9:n.-228-5308T>A
ENST00000376288.2:c.52A>T (CDSN) ENSP00000365465.2:p.Met18Leu
ENST00000479581.5:n.61+5477T>A (PSORS1C1)
ENST00000548049.1:n.120-5311T>A (PSORS1C1)
ENST00000550838.1:n.59-5371T>A (PSORS1C1)
ENST00000552747.1:n.53+5477T>A (PSORS1C1)
NM_001264.4:c.52A>T (CDSN) NP_001255.3:p.Met18Leu
NM_014068.2:c.-228-5308T>A (PSORS1C1) NP_054787.2:n.-228-5308T>A
NM_001264.5:c.52A>T (CDSN) MANE Select NP_001255.4:p.Met18Leu
NM_014068.3:c.-228-5308T>A (PSORS1C1) MANE Select NP_054787.2:n.-228-5308T>A
Search 100 bp 5'
Search 100 bp 3'