Canonical Allele Identifier: CA377127256

Gene: SGPL1 PCBD1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70884006C>G , CM000672.2:g.70884006C>G	GRCh38
NC_000010.10:g.72643763C>G , CM000672.1:g.72643763C>G	GRCh37
NC_000010.9:g.72313769C>G	NCBI36
NG_008646.1:g.9779G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000281.4:c.259G>C (PCBD1) MANE Select	NP_000272.1:p.Glu87Gln
ENST00000299299.4:c.259G>C (PCBD1) MANE Select	ENSP00000299299.3:p.Glu87Gln
NM_000281.3:c.259G>C (PCBD1)	NP_000272.1:p.Glu87Gln
NM_001289797.1:c.112G>C (PCBD1)	NP_001276726.1:p.Glu38Gln
NM_001289797.2:c.112G>C (PCBD1)	NP_001276726.1:p.Glu38Gln
NM_001323004.1:c.216+1146G>C (PCBD1)	NP_001309933.1:n.216+1146G>C
NM_001323004.2:c.216+1146G>C (PCBD1)	NP_001309933.1:n.216+1146G>C
ENST00000299299.3:c.259G>C (PCBD1)	ENSP00000299299.3:p.Glu87Gln
ENST00000493228.1:n.658G>C (PCBD1)
ENST00000493961.5:n.183+1146G>C (PCBD1)
ENST00000697988.1:c.571-9753C>G (SGPL1)	ENSP00000513492.1:n.571-9753C>G
XM_005269877.1:c.216+1146G>C (PCBD1)	XP_005269934.1:n.216+1146G>C