Canonical Allele Identifier: CA209403735

Gene: SGPL1 PCBD1

Linked Data

• dbSNP Id: rs111441402
• gnomAD v2: 10-72643875-G-T
• gnomAD v3: 10-70884118-G-T
• gnomAD v4: 10-70884118-G-T
• MyVariant Identifiers: chr10:g.72643875G>T (hg19) ; chr10:g.70884118G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70884118G>T , CM000672.2:g.70884118G>T	GRCh38
NC_000010.10:g.72643875G>T , CM000672.1:g.72643875G>T	GRCh37
NC_000010.9:g.72313881G>T	NCBI36
NG_008646.1:g.9667C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697988.1:c.571-9641G>T (SGPL1)	ENSP00000513492.1:n.571-9641G>T
ENST00000299299.4:c.217-70C>A (PCBD1) MANE Select	ENSP00000299299.3:n.217-70C>A
ENST00000299299.3:c.217-70C>A (PCBD1)	ENSP00000299299.3:n.217-70C>A
ENST00000493228.1:n.616-70C>A (PCBD1)
ENST00000493961.5:n.183+1034C>A (PCBD1)
NM_000281.3:c.217-70C>A (PCBD1)	NP_000272.1:n.217-70C>A
NM_001289797.1:c.70-70C>A (PCBD1)	NP_001276726.1:n.70-70C>A
XM_005269877.1:c.216+1034C>A (PCBD1)	XP_005269934.1:n.216+1034C>A
NM_001323004.1:c.216+1034C>A (PCBD1)	NP_001309933.1:n.216+1034C>A
NM_000281.4:c.217-70C>A (PCBD1) MANE Select	NP_000272.1:n.217-70C>A
NM_001289797.2:c.70-70C>A (PCBD1)	NP_001276726.1:n.70-70C>A
NM_001323004.2:c.216+1034C>A (PCBD1)	NP_001309933.1:n.216+1034C>A