Canonical Allele Identifier: CA3708570

Gene: PSORS1C1 CDSN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31120299G>A , CM000668.2:g.31120299G>A	GRCh38
NC_000006.11:g.31088076G>A , CM000668.1:g.31088076G>A	GRCh37
NC_000006.10:g.31196055G>A	NCBI36
NG_012192.1:g.5148C>T
NG_021348.1:g.10469G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-228-5377G>A (PSORS1C1) MANE Select	ENSP00000259881.9:n.-228-5377G>A
ENST00000376288.3:c.85+36C>T (CDSN) MANE Select	ENSP00000365465.2:n.85+36C>T
ENST00000259881.9:c.-228-5377G>A (PSORS1C1)	ENSP00000259881.9:n.-228-5377G>A
ENST00000376288.2:c.85+36C>T (CDSN)	ENSP00000365465.2:n.85+36C>T
ENST00000479581.5:n.61+5408G>A (PSORS1C1)
ENST00000548049.1:n.120-5380G>A (PSORS1C1)
ENST00000550838.1:n.58+5408G>A (PSORS1C1)
ENST00000552747.1:n.53+5408G>A (PSORS1C1)
NM_001264.4:c.85+36C>T (CDSN)	NP_001255.3:n.85+36C>T
NM_014068.2:c.-228-5377G>A (PSORS1C1)	NP_054787.2:n.-228-5377G>A
NM_001264.5:c.85+36C>T (CDSN) MANE Select	NP_001255.4:n.85+36C>T
NM_014068.3:c.-228-5377G>A (PSORS1C1) MANE Select	NP_054787.2:n.-228-5377G>A