Canonical Allele Identifier: CA2609538942

Gene: SGPL1 PCBD1

Linked Data

• gnomAD v4: 10-70883912-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70883912C>A , CM000672.2:g.70883912C>A	GRCh38
NC_000010.10:g.72643669C>A , CM000672.1:g.72643669C>A	GRCh37
NC_000010.9:g.72313675C>A	NCBI36
NG_008646.1:g.9873G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697988.1:c.571-9847C>A (SGPL1)	ENSP00000513492.1:n.571-9847C>A
ENST00000299299.4:c.*38G>T (PCBD1) MANE Select	ENSP00000299299.3:n.*38G>T
ENST00000299299.3:c.*38G>T (PCBD1)	ENSP00000299299.3:n.*38G>T
ENST00000493961.5:n.183+1240G>T (PCBD1)
NM_000281.3:c.*38G>T (PCBD1)	NP_000272.1:n.*38G>T
NM_001289797.1:c.*38G>T (PCBD1)	NP_001276726.1:n.*38G>T
XM_005269877.1:c.216+1240G>T (PCBD1)	XP_005269934.1:n.216+1240G>T
NM_001323004.1:c.216+1240G>T (PCBD1)	NP_001309933.1:n.216+1240G>T
NM_000281.4:c.*38G>T (PCBD1) MANE Select	NP_000272.1:n.*38G>T
NM_001289797.2:c.*38G>T (PCBD1)	NP_001276726.1:n.*38G>T
NM_001323004.2:c.216+1240G>T (PCBD1)	NP_001309933.1:n.216+1240G>T