Canonical Allele Identifier: CA2299632

Gene: GLB1

Linked Data

• ClinVar Variation Id: 726678
• ClinVar RCV Id: RCV000900929
• dbSNP Id: rs754493105
• ExAC: 3:33099621 C / G
• gnomAD v2: 3-33099621-C-G
• gnomAD v4: 3-33058129-C-G
• MyVariant Identifiers: chr3:g.33099621C>G (hg19) ; chr3:g.33058129C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33058129C>G , CM000665.2:g.33058129C>G	GRCh38
NC_000003.11:g.33099621C>G , CM000665.1:g.33099621C>G	GRCh37
NC_000003.10:g.33074625C>G	NCBI36
NG_009005.1:g.44074G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.693G>C MANE Select	ENSP00000306920.4:p.Gly231=
ENST00000307363.9:c.693G>C	ENSP00000306920.4:p.Gly231=
ENST00000307377.12:c.341-4580G>C	ENSP00000305920.8:n.341-4580G>C
ENST00000399402.7:c.603G>C	ENSP00000382333.2:p.Gly201=
ENST00000415454.1:c.216G>C	ENSP00000411813.1:p.Gly72=
ENST00000438227.1:c.*185G>C	ENSP00000401250.1:n.*185G>C
ENST00000440656.1:c.300G>C	ENSP00000411769.1:p.Gly100=
ENST00000446732.5:c.*136G>C	ENSP00000407365.1:n.*136G>C
ENST00000482097.5:n.109-4580G>C
ENST00000485698.5:n.137-4580G>C
ENST00000498537.5:n.133-4580G>C
NM_000404.2:c.693G>C	NP_000395.2:p.Gly231=
NM_000404.3:c.693G>C	NP_000395.2:p.Gly231=
NM_001079811.1:c.603G>C	NP_001073279.1:p.Gly201=
NM_001079811.2:c.603G>C	NP_001073279.1:p.Gly201=
NM_001135602.1:c.341-4580G>C	NP_001129074.1:n.341-4580G>C
NM_001135602.2:c.341-4580G>C	NP_001129074.1:n.341-4580G>C
NM_001317040.1:c.837G>C	NP_001303969.1:p.Gly279=
NM_000404.4:c.693G>C MANE Select	NP_000395.3:p.Gly231=
NM_001079811.3:c.603G>C	NP_001073279.2:p.Gly201=
NM_001135602.3:c.341-4580G>C	NP_001129074.2:n.341-4580G>C
NM_001317040.2:c.837G>C	NP_001303969.2:p.Gly279=
NM_001393580.1:c.693G>C	NP_001380509.1:p.Gly231=