Canonical Allele Identifier: CA10636058

Gene: SGPL1 PCBD1

Linked Data

• ClinVar Variation Id: 300343
• ClinVar RCV Id: RCV000397554
• dbSNP Id: rs544135564
• gnomAD v3: 10-70883834-G-A
• gnomAD v4: 10-70883834-G-A
• MyVariant Identifiers: chr10:g.72643591G>A (hg19) ; chr10:g.70883834G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70883834G>A , CM000672.2:g.70883834G>A	GRCh38
NC_000010.10:g.72643591G>A , CM000672.1:g.72643591G>A	GRCh37
NC_000010.9:g.72313597G>A	NCBI36
NG_008646.1:g.9951C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697988.1:c.571-9925G>A (SGPL1)	ENSP00000513492.1:n.571-9925G>A
ENST00000299299.4:c.*116C>T (PCBD1) MANE Select	ENSP00000299299.3:n.*116C>T
ENST00000299299.3:c.*116C>T (PCBD1)	ENSP00000299299.3:n.*116C>T
ENST00000493961.5:n.183+1318C>T (PCBD1)
NM_000281.3:c.*116C>T (PCBD1)	NP_000272.1:n.*116C>T
NM_001289797.1:c.*116C>T (PCBD1)	NP_001276726.1:n.*116C>T
XM_005269877.1:c.216+1318C>T (PCBD1)	XP_005269934.1:n.216+1318C>T
NM_001323004.1:c.216+1318C>T (PCBD1)	NP_001309933.1:n.216+1318C>T
NM_000281.4:c.*116C>T (PCBD1) MANE Select	NP_000272.1:n.*116C>T
NM_001289797.2:c.*116C>T (PCBD1)	NP_001276726.1:n.*116C>T
NM_001323004.2:c.216+1318C>T (PCBD1)	NP_001309933.1:n.216+1318C>T