Canonical Allele Identifier: CA1918456477

Gene: SGPL1 PCBD1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70885854C= , CM000672.2:g.70885854C=	GRCh38
NC_000010.10:g.72645611C= , CM000672.1:g.72645611C=	GRCh37
NC_000010.9:g.72315617C=	NCBI36
NG_008646.1:g.7931G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000281.4:c.79G= (PCBD1) MANE Select	NP_000272.1:p.Glu27=
ENST00000299299.4:c.79G= (PCBD1) MANE Select	ENSP00000299299.3:p.Glu27=
NM_000281.3:c.79G= (PCBD1)	NP_000272.1:p.Glu27=
NM_001289797.1:c.-69G= (PCBD1)	NP_001276726.1:n.-69G=
NM_001289797.2:c.-69G= (PCBD1)	NP_001276726.1:n.-69G=
NM_001323004.1:c.79G= (PCBD1)	NP_001309933.1:p.Glu27=
NM_001323004.2:c.79G= (PCBD1)	NP_001309933.1:p.Glu27=
ENST00000299299.3:c.79G= (PCBD1)	ENSP00000299299.3:p.Glu27=
ENST00000493228.1:n.478G= (PCBD1)
ENST00000493961.5:n.46G= (PCBD1)
ENST00000697988.1:c.571-7905C= (SGPL1)	ENSP00000513492.1:n.571-7905C=
XM_005269877.1:c.79G= (PCBD1)	XP_005269934.1:p.Glu27=