Canonical Allele Identifier: CA352000763

Gene: GLB1

Linked Data

• gnomAD v4: 3-32997299-C-T
• MyVariant Identifiers: chr3:g.33038791C>T (hg19) ; chr3:g.32997299C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997299C>T , CM000665.2:g.32997299C>T	GRCh38
NC_000003.11:g.33038791C>T , CM000665.1:g.33038791C>T	GRCh37
NC_000003.10:g.33013795C>T	NCBI36
NG_009005.1:g.104904G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1780G>A MANE Select	ENSP00000306920.4:p.Ala594Thr
ENST00000307363.9:c.1780G>A	ENSP00000306920.4:p.Ala594Thr
ENST00000307377.12:c.1387G>A	ENSP00000305920.8:p.Ala463Thr
ENST00000399402.7:c.1690G>A	ENSP00000382333.2:p.Ala564Thr
NM_000404.2:c.1780G>A	NP_000395.2:p.Ala594Thr
NM_000404.3:c.1780G>A	NP_000395.2:p.Ala594Thr
NM_001079811.1:c.1690G>A	NP_001073279.1:p.Ala564Thr
NM_001079811.2:c.1690G>A	NP_001073279.1:p.Ala564Thr
NM_001135602.1:c.1387G>A	NP_001129074.1:p.Ala463Thr
NM_001135602.2:c.1387G>A	NP_001129074.1:p.Ala463Thr
NM_001317040.1:c.1924G>A	NP_001303969.1:p.Ala642Thr
NM_000404.4:c.1780G>A MANE Select	NP_000395.3:p.Ala594Thr
NM_001079811.3:c.1690G>A	NP_001073279.2:p.Ala564Thr
NM_001135602.3:c.1387G>A	NP_001129074.2:p.Ala463Thr
NM_001317040.2:c.1924G>A	NP_001303969.2:p.Ala642Thr
NM_001393580.1:c.1734+16757G>A	NP_001380509.1:n.1734+16757G>A