Canonical Allele Identifier: CA432960438

Gene: GLB1

Linked Data

• ClinVar Variation Id: 1546324
• ClinVar RCV Id: RCV002170702
• dbSNP Id: rs2125442941
• MyVariant Identifiers: chr3:g.33038807A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997315A>G , CM000665.2:g.32997315A>G	GRCh38
NC_000003.11:g.33038807A>G , CM000665.1:g.33038807A>G	GRCh37
NC_000003.10:g.33013811A>G	NCBI36
NG_009005.1:g.104888T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.1764T>C MANE Select	ENSP00000306920.4:p.Leu588=
ENST00000307363.9:c.1764T>C	ENSP00000306920.4:p.Leu588=
ENST00000307377.12:c.1371T>C	ENSP00000305920.8:p.Leu457=
ENST00000399402.7:c.1674T>C	ENSP00000382333.2:p.Leu558=
NM_000404.2:c.1764T>C	NP_000395.2:p.Leu588=
NM_000404.3:c.1764T>C	NP_000395.2:p.Leu588=
NM_001079811.1:c.1674T>C	NP_001073279.1:p.Leu558=
NM_001079811.2:c.1674T>C	NP_001073279.1:p.Leu558=
NM_001135602.1:c.1371T>C	NP_001129074.1:p.Leu457=
NM_001135602.2:c.1371T>C	NP_001129074.1:p.Leu457=
NM_001317040.1:c.1908T>C	NP_001303969.1:p.Leu636=
NM_000404.4:c.1764T>C MANE Select	NP_000395.3:p.Leu588=
NM_001079811.3:c.1674T>C	NP_001073279.2:p.Leu558=
NM_001135602.3:c.1371T>C	NP_001129074.2:p.Leu457=
NM_001317040.2:c.1908T>C	NP_001303969.2:p.Leu636=
NM_001393580.1:c.1734+16741T>C	NP_001380509.1:n.1734+16741T>C