Canonical Allele Identifier: CA5541569

Gene: SGPL1 PCBD1

Linked Data

• ClinVar Variation Id: 428616
• ClinVar RCV Id: RCV000492299
• dbSNP Id: rs770334825
• ExAC: 10:72643709 A / G
• gnomAD v2: 10-72643709-A-G
• gnomAD v4: 10-70883952-A-G
• COSMIC: COSM4792328
• MyVariant Identifiers: chr10:g.72643709A>G (hg19) ; chr10:g.70883952A>G (hg38)
• PubMed: PMID:5355377

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70883952A>G , CM000672.2:g.70883952A>G	GRCh38
NC_000010.10:g.72643709A>G , CM000672.1:g.72643709A>G	GRCh37
NC_000010.9:g.72313715A>G	NCBI36
NG_008646.1:g.9833T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697988.1:c.571-9807A>G (SGPL1)	ENSP00000513492.1:n.571-9807A>G
ENST00000299299.4:c.313T>C (PCBD1) MANE Select	ENSP00000299299.3:p.Ter105Gln
ENST00000299299.3:c.313T>C (PCBD1)	ENSP00000299299.3:p.Ter105Gln
ENST00000493228.1:n.712T>C (PCBD1)
ENST00000493961.5:n.183+1200T>C (PCBD1)
NM_000281.3:c.313T>C (PCBD1)	NP_000272.1:p.Ter105Gln
NM_001289797.1:c.166T>C (PCBD1)	NP_001276726.1:p.Ter56Gln
XM_005269877.1:c.216+1200T>C (PCBD1)	XP_005269934.1:n.216+1200T>C
NM_001323004.1:c.216+1200T>C (PCBD1)	NP_001309933.1:n.216+1200T>C
NM_000281.4:c.313T>C (PCBD1) MANE Select	NP_000272.1:p.Ter105Gln
NM_001289797.2:c.166T>C (PCBD1)	NP_001276726.1:p.Ter56Gln
NM_001323004.2:c.216+1200T>C (PCBD1)	NP_001309933.1:n.216+1200T>C