Canonical Allele Identifier: CA432959427

Gene: GLB1

Linked Data

• dbSNP Id: rs1204795217
• gnomAD v2: 3-33093389-C-A
• gnomAD v4: 3-33051897-C-A
• MyVariant Identifiers: chr3:g.33093389C>A (hg19) ; chr3:g.33051897C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33051897C>A , CM000665.2:g.33051897C>A	GRCh38
NC_000003.11:g.33093389C>A , CM000665.1:g.33093389C>A	GRCh37
NC_000003.10:g.33068393C>A	NCBI36
NG_009005.1:g.50306G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.900G>T MANE Select	ENSP00000306920.4:p.Gly300=
ENST00000307363.9:c.900G>T	ENSP00000306920.4:p.Gly300=
ENST00000307377.12:c.507G>T	ENSP00000305920.8:p.Gly169=
ENST00000399402.7:c.810G>T	ENSP00000382333.2:p.Gly270=
ENST00000415454.1:c.423G>T	ENSP00000411813.1:p.Gly141=
ENST00000446732.5:c.*343G>T	ENSP00000407365.1:n.*343G>T
ENST00000482097.5:n.275G>T
ENST00000485698.5:n.303G>T
ENST00000498537.5:n.426G>T
NM_000404.2:c.900G>T	NP_000395.2:p.Gly300=
NM_000404.3:c.900G>T	NP_000395.2:p.Gly300=
NM_001079811.1:c.810G>T	NP_001073279.1:p.Gly270=
NM_001079811.2:c.810G>T	NP_001073279.1:p.Gly270=
NM_001135602.1:c.507G>T	NP_001129074.1:p.Gly169=
NM_001135602.2:c.507G>T	NP_001129074.1:p.Gly169=
NM_001317040.1:c.1044G>T	NP_001303969.1:p.Gly348=
NM_000404.4:c.900G>T MANE Select	NP_000395.3:p.Gly300=
NM_001079811.3:c.810G>T	NP_001073279.2:p.Gly270=
NM_001135602.3:c.507G>T	NP_001129074.2:p.Gly169=
NM_001317040.2:c.1044G>T	NP_001303969.2:p.Gly348=
NM_001393580.1:c.900G>T	NP_001380509.1:p.Gly300=