Canonical Allele Identifier: CA377127238

Gene: SGPL1 PCBD1

Linked Data

• gnomAD v4: 10-70883997-T-G
• MyVariant Identifiers: chr10:g.72643754T>G (hg19) ; chr10:g.70883997T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70883997T>G , CM000672.2:g.70883997T>G	GRCh38
NC_000010.10:g.72643754T>G , CM000672.1:g.72643754T>G	GRCh37
NC_000010.9:g.72313760T>G	NCBI36
NG_008646.1:g.9788A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697988.1:c.571-9762T>G (SGPL1)	ENSP00000513492.1:n.571-9762T>G
ENST00000299299.4:c.268A>C (PCBD1) MANE Select	ENSP00000299299.3:p.Ile90Leu
ENST00000299299.3:c.268A>C (PCBD1)	ENSP00000299299.3:p.Ile90Leu
ENST00000493228.1:n.667A>C (PCBD1)
ENST00000493961.5:n.183+1155A>C (PCBD1)
NM_000281.3:c.268A>C (PCBD1)	NP_000272.1:p.Ile90Leu
NM_001289797.1:c.121A>C (PCBD1)	NP_001276726.1:p.Ile41Leu
XM_005269877.1:c.216+1155A>C (PCBD1)	XP_005269934.1:n.216+1155A>C
NM_001323004.1:c.216+1155A>C (PCBD1)	NP_001309933.1:n.216+1155A>C
NM_000281.4:c.268A>C (PCBD1) MANE Select	NP_000272.1:p.Ile90Leu
NM_001289797.2:c.121A>C (PCBD1)	NP_001276726.1:p.Ile41Leu
NM_001323004.2:c.216+1155A>C (PCBD1)	NP_001309933.1:n.216+1155A>C