Canonical Allele Identifier: CA929737028

Gene: SGPL1 PCBD1

Linked Data

• dbSNP Id: rs1846538560
• gnomAD v3: 10-70883948-G-T
• gnomAD v4: 10-70883948-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70883948G>T , CM000672.2:g.70883948G>T	GRCh38
NC_000010.10:g.72643705G>T , CM000672.1:g.72643705G>T	GRCh37
NC_000010.9:g.72313711G>T	NCBI36
NG_008646.1:g.9837C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697988.1:c.571-9811G>T (SGPL1)	ENSP00000513492.1:n.571-9811G>T
ENST00000299299.4:c.*2C>A (PCBD1) MANE Select	ENSP00000299299.3:n.*2C>A
ENST00000299299.3:c.*2C>A (PCBD1)	ENSP00000299299.3:n.*2C>A
ENST00000493228.1:n.716C>A (PCBD1)
ENST00000493961.5:n.183+1204C>A (PCBD1)
NM_000281.3:c.*2C>A (PCBD1)	NP_000272.1:n.*2C>A
NM_001289797.1:c.*2C>A (PCBD1)	NP_001276726.1:n.*2C>A
XM_005269877.1:c.216+1204C>A (PCBD1)	XP_005269934.1:n.216+1204C>A
NM_001323004.1:c.216+1204C>A (PCBD1)	NP_001309933.1:n.216+1204C>A
NM_000281.4:c.*2C>A (PCBD1) MANE Select	NP_000272.1:n.*2C>A
NM_001289797.2:c.*2C>A (PCBD1)	NP_001276726.1:n.*2C>A
NM_001323004.2:c.216+1204C>A (PCBD1)	NP_001309933.1:n.216+1204C>A