Canonical Allele Identifier: CA5541576

Gene: SGPL1 PCBD1

Linked Data

• dbSNP Id: rs531725521
• ExAC: 10:72643766 A / C
• gnomAD v2: 10-72643766-A-C
• gnomAD v3: 10-70884009-A-C
• gnomAD v4: 10-70884009-A-C
• MyVariant Identifiers: chr10:g.72643766A>C (hg19) ; chr10:g.70884009A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70884009A>C , CM000672.2:g.70884009A>C	GRCh38
NC_000010.10:g.72643766A>C , CM000672.1:g.72643766A>C	GRCh37
NC_000010.9:g.72313772A>C	NCBI36
NG_008646.1:g.9776T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000697988.1:c.571-9750A>C (SGPL1)	ENSP00000513492.1:n.571-9750A>C
ENST00000299299.4:c.256T>G (PCBD1) MANE Select	ENSP00000299299.3:p.Ser86Ala
ENST00000299299.3:c.256T>G (PCBD1)	ENSP00000299299.3:p.Ser86Ala
ENST00000493228.1:n.655T>G (PCBD1)
ENST00000493961.5:n.183+1143T>G (PCBD1)
NM_000281.3:c.256T>G (PCBD1)	NP_000272.1:p.Ser86Ala
NM_001289797.1:c.109T>G (PCBD1)	NP_001276726.1:p.Ser37Ala
XM_005269877.1:c.216+1143T>G (PCBD1)	XP_005269934.1:n.216+1143T>G
NM_001323004.1:c.216+1143T>G (PCBD1)	NP_001309933.1:n.216+1143T>G
NM_000281.4:c.256T>G (PCBD1) MANE Select	NP_000272.1:p.Ser86Ala
NM_001289797.2:c.109T>G (PCBD1)	NP_001276726.1:p.Ser37Ala
NM_001323004.2:c.216+1143T>G (PCBD1)	NP_001309933.1:n.216+1143T>G