Canonical Allele Identifier: CA352000463
Gene: GLB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1414271
ClinVar RCV Id: RCV001930408
dbSNP Id: rs755581184
gnomAD v2: 3-33038698-G-A
gnomAD v3: 3-32997206-G-A
gnomAD v4: 3-32997206-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.32997206G>A , CM000665.2:g.32997206G>A GRCh38
NC_000003.11:g.33038698G>A , CM000665.1:g.33038698G>A GRCh37
NC_000003.10:g.33013702G>A NCBI36
NG_009005.1:g.104997C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307363.10:c.1873C>T MANE Select ENSP00000306920.4:p.Pro625Ser
ENST00000307363.9:c.1873C>T ENSP00000306920.4:p.Pro625Ser
ENST00000307377.12:c.1480C>T ENSP00000305920.8:p.Pro494Ser
ENST00000399402.7:c.1783C>T ENSP00000382333.2:p.Pro595Ser
NM_000404.2:c.1873C>T NP_000395.2:p.Pro625Ser
NM_000404.3:c.1873C>T NP_000395.2:p.Pro625Ser
NM_001079811.1:c.1783C>T NP_001073279.1:p.Pro595Ser
NM_001079811.2:c.1783C>T NP_001073279.1:p.Pro595Ser
NM_001135602.1:c.1480C>T NP_001129074.1:p.Pro494Ser
NM_001135602.2:c.1480C>T NP_001129074.1:p.Pro494Ser
NM_001317040.1:c.2017C>T NP_001303969.1:p.Pro673Ser
NM_000404.4:c.1873C>T MANE Select NP_000395.3:p.Pro625Ser
NM_001079811.3:c.1783C>T NP_001073279.2:p.Pro595Ser
NM_001135602.3:c.1480C>T NP_001129074.2:p.Pro494Ser
NM_001317040.2:c.2017C>T NP_001303969.2:p.Pro673Ser
NM_001393580.1:c.1734+16850C>T NP_001380509.1:n.1734+16850C>T