Canonical Allele Identifier: CA352003995

Gene: GLB1

Linked Data

• MyVariant Identifiers: chr3:g.33099613T>G (hg19) ; chr3:g.33058121T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33058121T>G , CM000665.2:g.33058121T>G	GRCh38
NC_000003.11:g.33099613T>G , CM000665.1:g.33099613T>G	GRCh37
NC_000003.10:g.33074617T>G	NCBI36
NG_009005.1:g.44082A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.701A>C MANE Select	ENSP00000306920.4:p.Gln234Pro
ENST00000307363.9:c.701A>C	ENSP00000306920.4:p.Gln234Pro
ENST00000307377.12:c.341-4572A>C	ENSP00000305920.8:n.341-4572A>C
ENST00000399402.7:c.611A>C	ENSP00000382333.2:p.Gln204Pro
ENST00000415454.1:c.224A>C	ENSP00000411813.1:p.Gln75Pro
ENST00000438227.1:c.*193A>C	ENSP00000401250.1:n.*193A>C
ENST00000440656.1:c.308A>C	ENSP00000411769.1:p.Gln103Pro
ENST00000446732.5:c.*144A>C	ENSP00000407365.1:n.*144A>C
ENST00000482097.5:n.109-4572A>C
ENST00000485698.5:n.137-4572A>C
ENST00000498537.5:n.133-4572A>C
NM_000404.2:c.701A>C	NP_000395.2:p.Gln234Pro
NM_000404.3:c.701A>C	NP_000395.2:p.Gln234Pro
NM_001079811.1:c.611A>C	NP_001073279.1:p.Gln204Pro
NM_001079811.2:c.611A>C	NP_001073279.1:p.Gln204Pro
NM_001135602.1:c.341-4572A>C	NP_001129074.1:n.341-4572A>C
NM_001135602.2:c.341-4572A>C	NP_001129074.1:n.341-4572A>C
NM_001317040.1:c.845A>C	NP_001303969.1:p.Gln282Pro
NM_000404.4:c.701A>C MANE Select	NP_000395.3:p.Gln234Pro
NM_001079811.3:c.611A>C	NP_001073279.2:p.Gln204Pro
NM_001135602.3:c.341-4572A>C	NP_001129074.2:n.341-4572A>C
NM_001317040.2:c.845A>C	NP_001303969.2:p.Gln282Pro
NM_001393580.1:c.701A>C	NP_001380509.1:p.Gln234Pro