Canonical Allele Identifier: CA377127182

Gene: SGPL1 PCBD1

Linked Data

• dbSNP Id: rs1846539530
• gnomAD v4: 10-70883972-T-C
• MyVariant Identifiers: chr10:g.72643729T>C (hg19) ; chr10:g.70883972T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70883972T>C , CM000672.2:g.70883972T>C	GRCh38
NC_000010.10:g.72643729T>C , CM000672.1:g.72643729T>C	GRCh37
NC_000010.9:g.72313735T>C	NCBI36
NG_008646.1:g.9813A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697988.1:c.571-9787T>C (SGPL1)	ENSP00000513492.1:n.571-9787T>C
ENST00000299299.4:c.293A>G (PCBD1) MANE Select	ENSP00000299299.3:p.Gln98Arg
ENST00000299299.3:c.293A>G (PCBD1)	ENSP00000299299.3:p.Gln98Arg
ENST00000493228.1:n.692A>G (PCBD1)
ENST00000493961.5:n.183+1180A>G (PCBD1)
NM_000281.3:c.293A>G (PCBD1)	NP_000272.1:p.Gln98Arg
NM_001289797.1:c.146A>G (PCBD1)	NP_001276726.1:p.Gln49Arg
XM_005269877.1:c.216+1180A>G (PCBD1)	XP_005269934.1:n.216+1180A>G
NM_001323004.1:c.216+1180A>G (PCBD1)	NP_001309933.1:n.216+1180A>G
NM_000281.4:c.293A>G (PCBD1) MANE Select	NP_000272.1:p.Gln98Arg
NM_001289797.2:c.146A>G (PCBD1)	NP_001276726.1:p.Gln49Arg
NM_001323004.2:c.216+1180A>G (PCBD1)	NP_001309933.1:n.216+1180A>G