Canonical Allele Identifier: CA2609538920

Gene: SGPL1 PCBD1

Linked Data

• gnomAD v4: 10-70883879-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70883879T>C , CM000672.2:g.70883879T>C	GRCh38
NC_000010.10:g.72643636T>C , CM000672.1:g.72643636T>C	GRCh37
NC_000010.9:g.72313642T>C	NCBI36
NG_008646.1:g.9906A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697988.1:c.571-9880T>C (SGPL1)	ENSP00000513492.1:n.571-9880T>C
ENST00000299299.4:c.*71A>G (PCBD1) MANE Select	ENSP00000299299.3:n.*71A>G
ENST00000299299.3:c.*71A>G (PCBD1)	ENSP00000299299.3:n.*71A>G
ENST00000493961.5:n.183+1273A>G (PCBD1)
NM_000281.3:c.*71A>G (PCBD1)	NP_000272.1:n.*71A>G
NM_001289797.1:c.*71A>G (PCBD1)	NP_001276726.1:n.*71A>G
XM_005269877.1:c.216+1273A>G (PCBD1)	XP_005269934.1:n.216+1273A>G
NM_001323004.1:c.216+1273A>G (PCBD1)	NP_001309933.1:n.216+1273A>G
NM_000281.4:c.*71A>G (PCBD1) MANE Select	NP_000272.1:n.*71A>G
NM_001289797.2:c.*71A>G (PCBD1)	NP_001276726.1:n.*71A>G
NM_001323004.2:c.216+1273A>G (PCBD1)	NP_001309933.1:n.216+1273A>G