Canonical Allele Identifier: CA1619021452
Gene: PSORS1C1 HGNC NCBI
PSORS1C2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139071G= , CM000668.2:g.31139071G= GRCh38
NC_000006.11:g.31106848G= , CM000668.1:g.31106848G= GRCh37
NC_000006.10:g.31214827G= NCBI36
NG_021348.1:g.29241G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.167+292G= (PSORS1C1) MANE Select ENSP00000259881.9:n.167+292G=
ENST00000259845.4:c.-45C= (PSORS1C2) ENSP00000259845.4:n.-45C=
ENST00000259881.9:c.167+292G= (PSORS1C1) ENSP00000259881.9:n.167+292G=
ENST00000479581.5:n.62-570G= (PSORS1C1)
ENST00000481450.2:c.-22-570G= (PSORS1C1) ENSP00000447158.1:n.-22-570G=
ENST00000547221.1:c.23+292G= (PSORS1C1) ENSP00000449471.1:n.23+292G=
ENST00000552747.1:n.766G= (PSORS1C1)
NM_014068.2:c.167+292G= (PSORS1C1) NP_054787.2:n.167+292G=
NM_014069.2:c.-45C= (PSORS1C2) NP_054788.2:n.-45C=
NM_014068.3:c.167+292G= (PSORS1C1) MANE Select NP_054787.2:n.167+292G=