Canonical Allele Identifier: CA278137

Gene: SGPL1 PCBD1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70884021A>G , CM000672.2:g.70884021A>G	GRCh38
NC_000010.10:g.72643778A>G , CM000672.1:g.72643778A>G	GRCh37
NC_000010.9:g.72313784A>G	NCBI36
NG_008646.1:g.9764T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000281.4:c.244T>C (PCBD1) MANE Select	NP_000272.1:p.Cys82Arg
ENST00000299299.4:c.244T>C (PCBD1) MANE Select	ENSP00000299299.3:p.Cys82Arg
NM_000281.3:c.244T>C (PCBD1)	NP_000272.1:p.Cys82Arg
NM_001289797.1:c.97T>C (PCBD1)	NP_001276726.1:p.Cys33Arg
NM_001289797.2:c.97T>C (PCBD1)	NP_001276726.1:p.Cys33Arg
NM_001323004.1:c.216+1131T>C (PCBD1)	NP_001309933.1:n.216+1131T>C
NM_001323004.2:c.216+1131T>C (PCBD1)	NP_001309933.1:n.216+1131T>C
ENST00000299299.3:c.244T>C (PCBD1)	ENSP00000299299.3:p.Cys82Arg
ENST00000493228.1:n.643T>C (PCBD1)
ENST00000493961.5:n.183+1131T>C (PCBD1)
ENST00000697988.1:c.571-9738A>G (SGPL1)	ENSP00000513492.1:n.571-9738A>G
XM_005269877.1:c.216+1131T>C (PCBD1)	XP_005269934.1:n.216+1131T>C