Canonical Allele Identifier: CA432952685

Gene: GLB1

Linked Data

• MyVariant Identifiers: chr3:g.33055692A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33014200A>C , CM000665.2:g.33014200A>C	GRCh38
NC_000003.11:g.33055692A>C , CM000665.1:g.33055692A>C	GRCh37
NC_000003.10:g.33030696A>C	NCBI36
NG_009005.1:g.88003T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1590T>G MANE Select	ENSP00000306920.4:p.Arg530=
ENST00000307363.9:c.1590T>G	ENSP00000306920.4:p.Arg530=
ENST00000307377.12:c.1197T>G	ENSP00000305920.8:p.Arg399=
ENST00000399402.7:c.1500T>G	ENSP00000382333.2:p.Arg500=
ENST00000461475.5:n.689T>G
ENST00000497796.5:n.842T>G
NM_000404.2:c.1590T>G	NP_000395.2:p.Arg530=
NM_000404.3:c.1590T>G	NP_000395.2:p.Arg530=
NM_001079811.1:c.1500T>G	NP_001073279.1:p.Arg500=
NM_001079811.2:c.1500T>G	NP_001073279.1:p.Arg500=
NM_001135602.1:c.1197T>G	NP_001129074.1:p.Arg399=
NM_001135602.2:c.1197T>G	NP_001129074.1:p.Arg399=
NM_001317040.1:c.1734T>G	NP_001303969.1:p.Arg578=
NM_000404.4:c.1590T>G MANE Select	NP_000395.3:p.Arg530=
NM_001079811.3:c.1500T>G	NP_001073279.2:p.Arg500=
NM_001135602.3:c.1197T>G	NP_001129074.2:p.Arg399=
NM_001317040.2:c.1734T>G	NP_001303969.2:p.Arg578=
NM_001393580.1:c.1590T>G	NP_001380509.1:p.Arg530=