Canonical Allele Identifier: CA351983787

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33014093G>T , CM000665.2:g.33014093G>T	GRCh38
NC_000003.11:g.33055585G>T , CM000665.1:g.33055585G>T	GRCh37
NC_000003.10:g.33030589G>T	NCBI36
NG_009005.1:g.88110C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.1697C>A MANE Select	NP_000395.3:p.Pro566His
ENST00000307363.10:c.1697C>A MANE Select	ENSP00000306920.4:p.Pro566His
NM_000404.2:c.1697C>A	NP_000395.2:p.Pro566His
NM_000404.3:c.1697C>A	NP_000395.2:p.Pro566His
NM_001079811.1:c.1607C>A	NP_001073279.1:p.Pro536His
NM_001079811.2:c.1607C>A	NP_001073279.1:p.Pro536His
NM_001079811.3:c.1607C>A	NP_001073279.2:p.Pro536His
NM_001135602.1:c.1304C>A	NP_001129074.1:p.Pro435His
NM_001135602.2:c.1304C>A	NP_001129074.1:p.Pro435His
NM_001135602.3:c.1304C>A	NP_001129074.2:p.Pro435His
NM_001317040.1:c.1841C>A	NP_001303969.1:p.Pro614His
NM_001317040.2:c.1841C>A	NP_001303969.2:p.Pro614His
NM_001393580.1:c.1697C>A	NP_001380509.1:p.Pro566His
ENST00000307363.9:c.1697C>A	ENSP00000306920.4:p.Pro566His
ENST00000307377.12:c.1304C>A	ENSP00000305920.8:p.Pro435His
ENST00000399402.7:c.1607C>A	ENSP00000382333.2:p.Pro536His
ENST00000461475.5:n.796C>A