Canonical Allele Identifier: CA1619013401

Gene: PSORS1C1 CDSN

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-228-5308T= (PSORS1C1) MANE Select	ENSP00000259881.9:n.-228-5308T=
ENST00000376288.3:c.52A= (CDSN) MANE Select	ENSP00000365465.2:p.Met18=
ENST00000259881.9:c.-228-5308T= (PSORS1C1)	ENSP00000259881.9:n.-228-5308T=
ENST00000376288.2:c.52A= (CDSN)	ENSP00000365465.2:p.Met18=
ENST00000479581.5:n.61+5477T= (PSORS1C1)
ENST00000548049.1:n.120-5311T= (PSORS1C1)
ENST00000550838.1:n.59-5371T= (PSORS1C1)
ENST00000552747.1:n.53+5477T= (PSORS1C1)
NM_001264.4:c.52A= (CDSN)	NP_001255.3:p.Met18=
NM_014068.2:c.-228-5308T= (PSORS1C1)	NP_054787.2:n.-228-5308T=
NM_001264.5:c.52A= (CDSN) MANE Select	NP_001255.4:p.Met18=
NM_014068.3:c.-228-5308T= (PSORS1C1) MANE Select	NP_054787.2:n.-228-5308T=