Canonical Allele Identifier: CA3708483

Gene: PSORS1C1 CDSN

Linked Data

• dbSNP Id: rs768284878
• ExAC: 6:31084885 T / G
• gnomAD v2: 6-31084885-T-G
• gnomAD v3: 6-31117108-T-G
• gnomAD v4: 6-31117108-T-G
• MyVariant Identifiers: chr6:g.31084885T>G (hg19) ; chr6:g.31117108T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117108T>G , CM000668.2:g.31117108T>G	GRCh38
NC_000006.11:g.31084885T>G , CM000668.1:g.31084885T>G	GRCh37
NC_000006.10:g.31192864T>G	NCBI36
NG_012192.1:g.8339A>C
NG_021348.1:g.7278T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2217T>G (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2217T>G
ENST00000376288.3:c.507A>C (CDSN) MANE Select	ENSP00000365465.2:p.Gln169His
ENST00000259881.9:c.-229+2217T>G (PSORS1C1)	ENSP00000259881.9:n.-229+2217T>G
ENST00000376288.2:c.507A>C (CDSN)	ENSP00000365465.2:p.Gln169His
ENST00000467107.1:n.2115T>G (PSORS1C1)
ENST00000479581.5:n.61+2217T>G (PSORS1C1)
ENST00000493289.1:n.86T>G (PSORS1C1)
ENST00000548049.1:n.119+2217T>G (PSORS1C1)
ENST00000550838.1:n.58+2217T>G (PSORS1C1)
ENST00000552747.1:n.53+2217T>G (PSORS1C1)
NM_001264.4:c.507A>C (CDSN)	NP_001255.3:p.Gln169His
NM_014068.2:c.-229+2217T>G (PSORS1C1)	NP_054787.2:n.-229+2217T>G
NM_001264.5:c.507A>C (CDSN) MANE Select	NP_001255.4:p.Gln169His
NM_014068.3:c.-229+2217T>G (PSORS1C1) MANE Select	NP_054787.2:n.-229+2217T>G