Canonical Allele Identifier: CA1356009113

Gene: GLB1

Linked Data

• dbSNP Id: rs1699799849
• gnomAD v4: 3-33069040-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33069040G>A , CM000665.2:g.33069040G>A	GRCh38
NC_000003.11:g.33110532G>A , CM000665.1:g.33110532G>A	GRCh37
NC_000003.10:g.33085536G>A	NCBI36
NG_009005.1:g.33163C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.246-70C>T MANE Select	ENSP00000306920.4:n.246-70C>T
ENST00000307363.9:c.246-70C>T	ENSP00000306920.4:n.246-70C>T
ENST00000307377.12:c.246-3483C>T	ENSP00000305920.8:n.246-3483C>T
ENST00000399402.7:c.156-70C>T	ENSP00000382333.2:n.156-70C>T
ENST00000415454.1:c.76-10771C>T	ENSP00000411813.1:n.76-10771C>T
ENST00000436768.1:c.390-70C>T	ENSP00000387989.1:n.390-70C>T
ENST00000438227.1:c.76-3483C>T	ENSP00000401250.1:n.76-3483C>T
ENST00000440656.1:c.-148-70C>T	ENSP00000411769.1:n.-148-70C>T
ENST00000446732.5:c.156-3483C>T	ENSP00000407365.1:n.156-3483C>T
ENST00000450835.1:c.156-70C>T	ENSP00000403264.1:n.156-70C>T
ENST00000464355.1:n.204-70C>T
ENST00000482097.5:n.109-15491C>T
ENST00000485698.5:n.137-15491C>T
ENST00000498537.5:n.133-15491C>T
NM_000404.2:c.246-70C>T	NP_000395.2:n.246-70C>T
NM_000404.3:c.246-70C>T	NP_000395.2:n.246-70C>T
NM_001079811.1:c.156-70C>T	NP_001073279.1:n.156-70C>T
NM_001079811.2:c.156-70C>T	NP_001073279.1:n.156-70C>T
NM_001135602.1:c.246-3483C>T	NP_001129074.1:n.246-3483C>T
NM_001135602.2:c.246-3483C>T	NP_001129074.1:n.246-3483C>T
NM_001317040.1:c.390-70C>T	NP_001303969.1:n.390-70C>T
NM_000404.4:c.246-70C>T MANE Select	NP_000395.3:n.246-70C>T
NM_001079811.3:c.156-70C>T	NP_001073279.2:n.156-70C>T
NM_001135602.3:c.246-3483C>T	NP_001129074.2:n.246-3483C>T
NM_001317040.2:c.390-70C>T	NP_001303969.2:n.390-70C>T
NM_001393580.1:c.246-70C>T	NP_001380509.1:n.246-70C>T