Canonical Allele Identifier: CA351983561

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33014062C>T , CM000665.2:g.33014062C>T	GRCh38
NC_000003.11:g.33055554C>T , CM000665.1:g.33055554C>T	GRCh37
NC_000003.10:g.33030558C>T	NCBI36
NG_009005.1:g.88141G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.1728G>A MANE Select	NP_000395.3:p.Trp576Ter
ENST00000307363.10:c.1728G>A MANE Select	ENSP00000306920.4:p.Trp576Ter
NM_000404.2:c.1728G>A	NP_000395.2:p.Trp576Ter
NM_000404.3:c.1728G>A	NP_000395.2:p.Trp576Ter
NM_001079811.1:c.1638G>A	NP_001073279.1:p.Trp546Ter
NM_001079811.2:c.1638G>A	NP_001073279.1:p.Trp546Ter
NM_001079811.3:c.1638G>A	NP_001073279.2:p.Trp546Ter
NM_001135602.1:c.1335G>A	NP_001129074.1:p.Trp445Ter
NM_001135602.2:c.1335G>A	NP_001129074.1:p.Trp445Ter
NM_001135602.3:c.1335G>A	NP_001129074.2:p.Trp445Ter
NM_001317040.1:c.1872G>A	NP_001303969.1:p.Trp624Ter
NM_001317040.2:c.1872G>A	NP_001303969.2:p.Trp624Ter
NM_001393580.1:c.1728G>A	NP_001380509.1:p.Trp576Ter
ENST00000307363.9:c.1728G>A	ENSP00000306920.4:p.Trp576Ter
ENST00000307377.12:c.1335G>A	ENSP00000305920.8:p.Trp445Ter
ENST00000399402.7:c.1638G>A	ENSP00000382333.2:p.Trp546Ter