Canonical Allele Identifier: CA351999983

Gene: GLB1

Linked Data

• dbSNP Id: rs1559374745
• gnomAD v4: 3-32997093-C-T
• MyVariant Identifiers: chr3:g.33038585C>T (hg19) ; chr3:g.32997093C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997093C>T , CM000665.2:g.32997093C>T	GRCh38
NC_000003.11:g.33038585C>T , CM000665.1:g.33038585C>T	GRCh37
NC_000003.10:g.33013589C>T	NCBI36
NG_009005.1:g.105110G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1986G>A MANE Select	ENSP00000306920.4:p.Met662Ile
ENST00000307363.9:c.1986G>A	ENSP00000306920.4:p.Met662Ile
ENST00000307377.12:c.1593G>A	ENSP00000305920.8:p.Met531Ile
ENST00000399402.7:c.1896G>A	ENSP00000382333.2:p.Met632Ile
NM_000404.2:c.1986G>A	NP_000395.2:p.Met662Ile
NM_000404.3:c.1986G>A	NP_000395.2:p.Met662Ile
NM_001079811.1:c.1896G>A	NP_001073279.1:p.Met632Ile
NM_001079811.2:c.1896G>A	NP_001073279.1:p.Met632Ile
NM_001135602.1:c.1593G>A	NP_001129074.1:p.Met531Ile
NM_001135602.2:c.1593G>A	NP_001129074.1:p.Met531Ile
NM_001317040.1:c.2130G>A	NP_001303969.1:p.Met710Ile
NM_000404.4:c.1986G>A MANE Select	NP_000395.3:p.Met662Ile
NM_001079811.3:c.1896G>A	NP_001073279.2:p.Met632Ile
NM_001135602.3:c.1593G>A	NP_001129074.2:p.Met531Ile
NM_001317040.2:c.2130G>A	NP_001303969.2:p.Met710Ile
NM_001393580.1:c.1734+16963G>A	NP_001380509.1:n.1734+16963G>A