Canonical Allele Identifier: CA202710
Gene: GLB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33068228A>G , CM000665.2:g.33068228A>G GRCh38
NC_000003.11:g.33109720A>G , CM000665.1:g.33109720A>G GRCh37
NC_000003.10:g.33084724A>G NCBI36
NG_009005.1:g.33975T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307363.10:c.457+2T>C MANE Select ENSP00000306920.4:n.457+2T>C
ENST00000307363.9:c.457+2T>C ENSP00000306920.4:n.457+2T>C
ENST00000307377.12:c.246-2671T>C ENSP00000305920.8:n.246-2671T>C
ENST00000399402.7:c.367+2T>C ENSP00000382333.2:n.367+2T>C
ENST00000415454.1:c.76-9959T>C ENSP00000411813.1:n.76-9959T>C
ENST00000438227.1:c.76-2671T>C ENSP00000401250.1:n.76-2671T>C
ENST00000440656.1:c.64+2T>C ENSP00000411769.1:n.64+2T>C
ENST00000446732.5:c.156-2671T>C ENSP00000407365.1:n.156-2671T>C
ENST00000464355.1:n.415+2T>C
ENST00000482097.5:n.109-14679T>C
ENST00000485698.5:n.137-14679T>C
ENST00000498537.5:n.133-14679T>C
NM_000404.2:c.457+2T>C NP_000395.2:n.457+2T>C
NM_000404.3:c.457+2T>C NP_000395.2:n.457+2T>C
NM_001079811.1:c.367+2T>C NP_001073279.1:n.367+2T>C
NM_001079811.2:c.367+2T>C NP_001073279.1:n.367+2T>C
NM_001135602.1:c.246-2671T>C NP_001129074.1:n.246-2671T>C
NM_001135602.2:c.246-2671T>C NP_001129074.1:n.246-2671T>C
NM_001317040.1:c.601+2T>C NP_001303969.1:n.601+2T>C
NM_000404.4:c.457+2T>C MANE Select NP_000395.3:n.457+2T>C
NM_001079811.3:c.367+2T>C NP_001073279.2:n.367+2T>C
NM_001135602.3:c.246-2671T>C NP_001129074.2:n.246-2671T>C
NM_001317040.2:c.601+2T>C NP_001303969.2:n.601+2T>C
NM_001393580.1:c.457+2T>C NP_001380509.1:n.457+2T>C
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