Canonical Allele Identifier: CA449601359

Gene: PSORS1C2 PSORS1C1

Linked Data

• MyVariant Identifiers: chr6:g.31106795G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139018G>C , CM000668.2:g.31139018G>C	GRCh38
NC_000006.11:g.31106795G>C , CM000668.1:g.31106795G>C	GRCh37
NC_000006.10:g.31214774G>C	NCBI36
NG_021348.1:g.29188G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259845.5:c.9C>G (PSORS1C2) MANE Select	ENSP00000259845.4:p.Leu3=
ENST00000259881.10:c.167+239G>C (PSORS1C1) MANE Select	ENSP00000259881.9:n.167+239G>C
ENST00000259845.4:c.9C>G (PSORS1C2)	ENSP00000259845.4:p.Leu3=
ENST00000259881.9:c.167+239G>C (PSORS1C1)	ENSP00000259881.9:n.167+239G>C
ENST00000479581.5:n.62-623G>C (PSORS1C1)
ENST00000481450.2:c.-23+559G>C (PSORS1C1)	ENSP00000447158.1:n.-23+559G>C
ENST00000547221.1:c.23+239G>C (PSORS1C1)	ENSP00000449471.1:n.23+239G>C
ENST00000552747.1:n.713G>C (PSORS1C1)
NM_014068.2:c.167+239G>C (PSORS1C1)	NP_054787.2:n.167+239G>C
NM_014069.2:c.9C>G (PSORS1C2)	NP_054788.2:p.Leu3=
NM_014069.3:c.9C>G (PSORS1C2) MANE Select	NP_054788.2:p.Leu3=
NM_014068.3:c.167+239G>C (PSORS1C1) MANE Select	NP_054787.2:n.167+239G>C