Canonical Allele Identifier: CA432960409

Gene: GLB1

Linked Data

• ClinVar Variation Id: 2953343
• ClinVar RCV Id: RCV003810461
• MyVariant Identifiers: chr3:g.33038770A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997278A>G , CM000665.2:g.32997278A>G	GRCh38
NC_000003.11:g.33038770A>G , CM000665.1:g.33038770A>G	GRCh37
NC_000003.10:g.33013774A>G	NCBI36
NG_009005.1:g.104925T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1801T>C MANE Select	ENSP00000306920.4:p.Leu601=
ENST00000307363.9:c.1801T>C	ENSP00000306920.4:p.Leu601=
ENST00000307377.12:c.1408T>C	ENSP00000305920.8:p.Leu470=
ENST00000399402.7:c.1711T>C	ENSP00000382333.2:p.Leu571=
NM_000404.2:c.1801T>C	NP_000395.2:p.Leu601=
NM_000404.3:c.1801T>C	NP_000395.2:p.Leu601=
NM_001079811.1:c.1711T>C	NP_001073279.1:p.Leu571=
NM_001079811.2:c.1711T>C	NP_001073279.1:p.Leu571=
NM_001135602.1:c.1408T>C	NP_001129074.1:p.Leu470=
NM_001135602.2:c.1408T>C	NP_001129074.1:p.Leu470=
NM_001317040.1:c.1945T>C	NP_001303969.1:p.Leu649=
NM_000404.4:c.1801T>C MANE Select	NP_000395.3:p.Leu601=
NM_001079811.3:c.1711T>C	NP_001073279.2:p.Leu571=
NM_001135602.3:c.1408T>C	NP_001129074.2:p.Leu470=
NM_001317040.2:c.1945T>C	NP_001303969.2:p.Leu649=
NM_001393580.1:c.1734+16778T>C	NP_001380509.1:n.1734+16778T>C