Canonical Allele Identifier: CA1139657922

Gene: GLB1

Linked Data

• ClinVar Variation Id: 959418
• ClinVar RCV Id: RCV001232770
• dbSNP Id: rs1697138071

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33014105dup , CM000665.2:g.33014105dup	GRCh38
NC_000003.11:g.33055597dup , CM000665.1:g.33055597dup	GRCh37
NC_000003.10:g.33030601dup	NCBI36
NG_009005.1:g.88098dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.1685dup MANE Select	ENSP00000306920.4:p.Asp564ArgfsTer21
ENST00000307363.9:c.1685dup	ENSP00000306920.4:p.Asp564ArgfsTer21
ENST00000307377.12:c.1292dup	ENSP00000305920.8:p.Asp433ArgfsTer21
ENST00000399402.7:c.1595dup	ENSP00000382333.2:p.Asp534ArgfsTer21
ENST00000461475.5:n.784dup
NM_000404.2:c.1685dup	NP_000395.2:p.Asp564ArgfsTer21
NM_000404.3:c.1685dup	NP_000395.2:p.Asp564ArgfsTer21
NM_001079811.1:c.1595dup	NP_001073279.1:p.Asp534ArgfsTer21
NM_001079811.2:c.1595dup	NP_001073279.1:p.Asp534ArgfsTer21
NM_001135602.1:c.1292dup	NP_001129074.1:p.Asp433ArgfsTer21
NM_001135602.2:c.1292dup	NP_001129074.1:p.Asp433ArgfsTer21
NM_001317040.1:c.1829dup	NP_001303969.1:p.Asp612ArgfsTer21
NM_000404.4:c.1685dup MANE Select	NP_000395.3:p.Asp564ArgfsTer21
NM_001079811.3:c.1595dup	NP_001073279.2:p.Asp534ArgfsTer21
NM_001135602.3:c.1292dup	NP_001129074.2:p.Asp433ArgfsTer21
NM_001317040.2:c.1829dup	NP_001303969.2:p.Asp612ArgfsTer21
NM_001393580.1:c.1685dup	NP_001380509.1:p.Asp564ArgfsTer?