Canonical Allele Identifier: CA049137

Gene: SGPL1 PCBD1

Linked Data

• ClinVar Variation Id: 242621
• ClinVar RCV Id: RCV000880965 ; RCV003907903
• dbSNP Id: rs115117837
• ExAC: 10:72643759 C / T
• gnomAD v2: 10-72643759-C-T
• gnomAD v3: 10-70884002-C-T
• gnomAD v4: 10-70884002-C-T
• MyVariant Identifiers: chr10:g.72643759C>T (hg19) ; chr10:g.70884002C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70884002C>T , CM000672.2:g.70884002C>T	GRCh38
NC_000010.10:g.72643759C>T , CM000672.1:g.72643759C>T	GRCh37
NC_000010.9:g.72313765C>T	NCBI36
NG_008646.1:g.9783G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697988.1:c.571-9757C>T (SGPL1)	ENSP00000513492.1:n.571-9757C>T
ENST00000299299.4:c.263G>A (PCBD1) MANE Select	ENSP00000299299.3:p.Arg88Gln
ENST00000299299.3:c.263G>A (PCBD1)	ENSP00000299299.3:p.Arg88Gln
ENST00000493228.1:n.662G>A (PCBD1)
ENST00000493961.5:n.183+1150G>A (PCBD1)
NM_000281.3:c.263G>A (PCBD1)	NP_000272.1:p.Arg88Gln
NM_001289797.1:c.116G>A (PCBD1)	NP_001276726.1:p.Arg39Gln
XM_005269877.1:c.216+1150G>A (PCBD1)	XP_005269934.1:n.216+1150G>A
NM_001323004.1:c.216+1150G>A (PCBD1)	NP_001309933.1:n.216+1150G>A
NM_000281.4:c.263G>A (PCBD1) MANE Select	NP_000272.1:p.Arg88Gln
NM_001289797.2:c.116G>A (PCBD1)	NP_001276726.1:p.Arg39Gln
NM_001323004.2:c.216+1150G>A (PCBD1)	NP_001309933.1:n.216+1150G>A