Canonical Allele Identifier: CA150629
Gene: GLB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 100725
ClinVar RCV Id: RCV000087091
dbSNP Id: rs587779403
MyVariant Identifiers: chr3:g.33063103dupC (hg19) chr3:g.33063102_33063103insC (hg19) chr3:g.33021611dupC (hg38) chr3:g.33021610_33021611insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33021613dup , CM000665.2:g.33021613dup GRCh38
NC_000003.11:g.33063105dup , CM000665.1:g.33063105dup GRCh37
NC_000003.10:g.33038109dup NCBI36
NG_009005.1:g.80592dup

Transcript Alleles

HGVS Amino-acid change
ENST00000307363.10:c.1188dup MANE Select ENSP00000306920.4:p.Pro397AlafsTer?
ENST00000307363.9:c.1188dup ENSP00000306920.4:p.Pro397AlafsTer?
ENST00000307377.12:c.795dup ENSP00000305920.8:p.Pro266AlafsTer?
ENST00000399402.7:c.1098dup ENSP00000382333.2:p.Pro367AlafsTer?
ENST00000461475.5:n.287dup
ENST00000467571.5:n.225dup
ENST00000473477.1:n.220dup
ENST00000497796.5:n.440dup
NM_000404.2:c.1188dup NP_000395.2:p.Pro397AlafsTer?
NM_000404.3:c.1188dup NP_000395.2:p.Pro397AlafsTer?
NM_001079811.1:c.1098dup NP_001073279.1:p.Pro367AlafsTer?
NM_001079811.2:c.1098dup NP_001073279.1:p.Pro367AlafsTer?
NM_001135602.1:c.795dup NP_001129074.1:p.Pro266AlafsTer?
NM_001135602.2:c.795dup NP_001129074.1:p.Pro266AlafsTer?
NM_001317040.1:c.1332dup NP_001303969.1:p.Pro445AlafsTer?
XR_001740634.1:n.1543-575dup
NM_000404.4:c.1188dup MANE Select NP_000395.3:p.Pro397AlafsTer?
NM_001079811.3:c.1098dup NP_001073279.2:p.Pro367AlafsTer?
NM_001135602.3:c.795dup NP_001129074.2:p.Pro266AlafsTer?
NM_001317040.2:c.1332dup NP_001303969.2:p.Pro445AlafsTer?
NM_001393580.1:c.1188dup NP_001380509.1:p.Pro397AlafsTer?
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