Canonical Allele Identifier: CA049219

Gene: SGPL1 PCBD1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.[70884002C>T;70885854C>A] , CM000672.2:g.[70884002C>T;70885854C>A]	GRCh38
NC_000010.10:g.[72643759C>T;72645611C>A] , CM000672.1:g.[72643759C>T;72645611C>A]	GRCh37
NC_000010.9:g.[72313765C>T;72315617C>A]	NCBI36
NG_008646.1:g.[7931G>T;9783G>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697988.1:c.[571-9757C>T;571-7905C>A] (SGPL1)	ENSP00000513492.1:n.[571-9757C>T;571-7905C>A]
ENST00000299299.4:c.[79G>T;263G>A] (PCBD1) MANE Select	ENSP00000299299.3:p.Glu27Ter
ENST00000299299.3:c.[79G>T;263G>A] (PCBD1)	ENSP00000299299.3:p.Glu27Ter
ENST00000493228.1:n.[478G>T;662G>A] (PCBD1)
ENST00000493961.5:n.[46G>T;183+1150G>A] (PCBD1)
NM_000281.3:c.[79G>T;263G>A] (PCBD1)	NP_000272.1:p.Glu27Ter
NM_001289797.1:c.[-69G>T;116G>A] (PCBD1)	NP_001276726.1:p.Arg39Gln
XM_005269877.1:c.[79G>T;216+1150G>A] (PCBD1)	XP_005269934.1:p.Glu27Ter
NM_001323004.1:c.[79G>T;216+1150G>A] (PCBD1)	NP_001309933.1:p.Glu27Ter
NM_000281.4:c.[79G>T;263G>A] (PCBD1) MANE Select	NP_000272.1:p.Glu27Ter
NM_001289797.2:c.[-69G>T;116G>A] (PCBD1)	NP_001276726.1:p.Arg39Gln
NM_001323004.2:c.[79G>T;216+1150G>A] (PCBD1)	NP_001309933.1:p.Glu27Ter