Canonical Allele Identifier: CA150630

Gene: GLB1

Linked Data

• ClinVar Variation Id: 100727
• ClinVar RCV Id: RCV000087093
• dbSNP Id: rs587779404
• MyVariant Identifiers: chr3:g.33093283A>G (hg19) ; chr3:g.33051791A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33051791A>G , CM000665.2:g.33051791A>G	GRCh38
NC_000003.11:g.33093283A>G , CM000665.1:g.33093283A>G	GRCh37
NC_000003.10:g.33068287A>G	NCBI36
NG_009005.1:g.50412T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.922T>C MANE Select	ENSP00000306920.4:p.Phe308Leu
ENST00000307363.9:c.922T>C	ENSP00000306920.4:p.Phe308Leu
ENST00000307377.12:c.529T>C	ENSP00000305920.8:p.Phe177Leu
ENST00000399402.7:c.832T>C	ENSP00000382333.2:p.Phe278Leu
ENST00000415454.1:c.445T>C	ENSP00000411813.1:p.Phe149Leu
ENST00000482097.5:n.297T>C
ENST00000485698.5:n.325T>C
ENST00000498537.5:n.448T>C
NM_000404.2:c.922T>C	NP_000395.2:p.Phe308Leu
NM_000404.3:c.922T>C	NP_000395.2:p.Phe308Leu
NM_001079811.1:c.832T>C	NP_001073279.1:p.Phe278Leu
NM_001079811.2:c.832T>C	NP_001073279.1:p.Phe278Leu
NM_001135602.1:c.529T>C	NP_001129074.1:p.Phe177Leu
NM_001135602.2:c.529T>C	NP_001129074.1:p.Phe177Leu
NM_001317040.1:c.1066T>C	NP_001303969.1:p.Phe356Leu
NM_000404.4:c.922T>C MANE Select	NP_000395.3:p.Phe308Leu
NM_001079811.3:c.832T>C	NP_001073279.2:p.Phe278Leu
NM_001135602.3:c.529T>C	NP_001129074.2:p.Phe177Leu
NM_001317040.2:c.1066T>C	NP_001303969.2:p.Phe356Leu
NM_001393580.1:c.922T>C	NP_001380509.1:p.Phe308Leu