Canonical Allele Identifier: CA377127233

Gene: SGPL1 PCBD1

Linked Data

• dbSNP Id: rs1413245787
• gnomAD v3: 10-70883995-T-C
• gnomAD v4: 10-70883995-T-C
• MyVariant Identifiers: chr10:g.72643752T>C (hg19) ; chr10:g.70883995T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70883995T>C , CM000672.2:g.70883995T>C	GRCh38
NC_000010.10:g.72643752T>C , CM000672.1:g.72643752T>C	GRCh37
NC_000010.9:g.72313758T>C	NCBI36
NG_008646.1:g.9790A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697988.1:c.571-9764T>C (SGPL1)	ENSP00000513492.1:n.571-9764T>C
ENST00000299299.4:c.270A>G (PCBD1) MANE Select	ENSP00000299299.3:p.Ile90Met
ENST00000299299.3:c.270A>G (PCBD1)	ENSP00000299299.3:p.Ile90Met
ENST00000493228.1:n.669A>G (PCBD1)
ENST00000493961.5:n.183+1157A>G (PCBD1)
NM_000281.3:c.270A>G (PCBD1)	NP_000272.1:p.Ile90Met
NM_001289797.1:c.123A>G (PCBD1)	NP_001276726.1:p.Ile41Met
XM_005269877.1:c.216+1157A>G (PCBD1)	XP_005269934.1:n.216+1157A>G
NM_001323004.1:c.216+1157A>G (PCBD1)	NP_001309933.1:n.216+1157A>G
NM_000281.4:c.270A>G (PCBD1) MANE Select	NP_000272.1:p.Ile90Met
NM_001289797.2:c.123A>G (PCBD1)	NP_001276726.1:p.Ile41Met
NM_001323004.2:c.216+1157A>G (PCBD1)	NP_001309933.1:n.216+1157A>G