Canonical Allele Identifier: CA3708328

Gene: PSORS1C1 CDSN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31116271A>G , CM000668.2:g.31116271A>G	GRCh38
NC_000006.11:g.31084048A>G , CM000668.1:g.31084048A>G	GRCh37
NC_000006.10:g.31192027A>G	NCBI36
NG_012192.1:g.9176T>C
NG_021348.1:g.6441A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+1380A>G (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+1380A>G
ENST00000376288.3:c.1344T>C (CDSN) MANE Select	ENSP00000365465.2:p.Cys448=
ENST00000259881.9:c.-229+1380A>G (PSORS1C1)	ENSP00000259881.9:n.-229+1380A>G
ENST00000376288.2:c.1344T>C (CDSN)	ENSP00000365465.2:p.Cys448=
ENST00000467107.1:n.1278A>G (PSORS1C1)
ENST00000479581.5:n.61+1380A>G (PSORS1C1)
ENST00000493289.1:n.68-819A>G (PSORS1C1)
ENST00000548049.1:n.119+1380A>G (PSORS1C1)
ENST00000550838.1:n.58+1380A>G (PSORS1C1)
ENST00000552747.1:n.53+1380A>G (PSORS1C1)
NM_001264.4:c.1344T>C (CDSN)	NP_001255.3:p.Cys448=
NM_014068.2:c.-229+1380A>G (PSORS1C1)	NP_054787.2:n.-229+1380A>G
NM_001264.5:c.1344T>C (CDSN) MANE Select	NP_001255.4:p.Cys448=
NM_014068.3:c.-229+1380A>G (PSORS1C1) MANE Select	NP_054787.2:n.-229+1380A>G