Canonical Allele Identifier: CA351992883

Gene: GLB1

Linked Data

• gnomAD v4: 3-33021579-A-G
• MyVariant Identifiers: chr3:g.33063071A>G (hg19) ; chr3:g.33021579A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33021579A>G , CM000665.2:g.33021579A>G	GRCh38
NC_000003.11:g.33063071A>G , CM000665.1:g.33063071A>G	GRCh37
NC_000003.10:g.33038075A>G	NCBI36
NG_009005.1:g.80624T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1220T>C MANE Select	ENSP00000306920.4:p.Ile407Thr
ENST00000307363.9:c.1220T>C	ENSP00000306920.4:p.Ile407Thr
ENST00000307377.12:c.827T>C	ENSP00000305920.8:p.Ile276Thr
ENST00000399402.7:c.1130T>C	ENSP00000382333.2:p.Ile377Thr
ENST00000461475.5:n.319T>C
ENST00000467571.5:n.257T>C
ENST00000473477.1:n.252T>C
ENST00000497796.5:n.472T>C
NM_000404.2:c.1220T>C	NP_000395.2:p.Ile407Thr
NM_000404.3:c.1220T>C	NP_000395.2:p.Ile407Thr
NM_001079811.1:c.1130T>C	NP_001073279.1:p.Ile377Thr
NM_001079811.2:c.1130T>C	NP_001073279.1:p.Ile377Thr
NM_001135602.1:c.827T>C	NP_001129074.1:p.Ile276Thr
NM_001135602.2:c.827T>C	NP_001129074.1:p.Ile276Thr
NM_001317040.1:c.1364T>C	NP_001303969.1:p.Ile455Thr
XR_001740634.1:n.1543-609A>G
NM_000404.4:c.1220T>C MANE Select	NP_000395.3:p.Ile407Thr
NM_001079811.3:c.1130T>C	NP_001073279.2:p.Ile377Thr
NM_001135602.3:c.827T>C	NP_001129074.2:p.Ile276Thr
NM_001317040.2:c.1364T>C	NP_001303969.2:p.Ile455Thr
NM_001393580.1:c.1220T>C	NP_001380509.1:p.Ile407Thr