Canonical Allele Identifier: CA1918455747

Gene: SGPL1 PCBD1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70884011A= , CM000672.2:g.70884011A=	GRCh38
NC_000010.10:g.72643768A= , CM000672.1:g.72643768A=	GRCh37
NC_000010.9:g.72313774A=	NCBI36
NG_008646.1:g.9774T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697988.1:c.571-9748A= (SGPL1)	ENSP00000513492.1:n.571-9748A=
ENST00000299299.4:c.254T= (PCBD1) MANE Select	ENSP00000299299.3:p.Leu85=
ENST00000299299.3:c.254T= (PCBD1)	ENSP00000299299.3:p.Leu85=
ENST00000493228.1:n.653T= (PCBD1)
ENST00000493961.5:n.183+1141T= (PCBD1)
NM_000281.3:c.254T= (PCBD1)	NP_000272.1:p.Leu85=
NM_001289797.1:c.107T= (PCBD1)	NP_001276726.1:p.Leu36=
XM_005269877.1:c.216+1141T= (PCBD1)	XP_005269934.1:n.216+1141T=
NM_001323004.1:c.216+1141T= (PCBD1)	NP_001309933.1:n.216+1141T=
NM_000281.4:c.254T= (PCBD1) MANE Select	NP_000272.1:p.Leu85=
NM_001289797.2:c.107T= (PCBD1)	NP_001276726.1:p.Leu36=
NM_001323004.2:c.216+1141T= (PCBD1)	NP_001309933.1:n.216+1141T=