Canonical Allele Identifier: CA352000899

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33051763C>T , CM000665.2:g.33051763C>T	GRCh38
NC_000003.11:g.33093255C>T , CM000665.1:g.33093255C>T	GRCh37
NC_000003.10:g.33068259C>T	NCBI36
NG_009005.1:g.50440G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.950G>A MANE Select	NP_000395.3:p.Trp317Ter
ENST00000307363.10:c.950G>A MANE Select	ENSP00000306920.4:p.Trp317Ter
NM_000404.2:c.950G>A	NP_000395.2:p.Trp317Ter
NM_000404.3:c.950G>A	NP_000395.2:p.Trp317Ter
NM_001079811.1:c.860G>A	NP_001073279.1:p.Trp287Ter
NM_001079811.2:c.860G>A	NP_001073279.1:p.Trp287Ter
NM_001079811.3:c.860G>A	NP_001073279.2:p.Trp287Ter
NM_001135602.1:c.557G>A	NP_001129074.1:p.Trp186Ter
NM_001135602.2:c.557G>A	NP_001129074.1:p.Trp186Ter
NM_001135602.3:c.557G>A	NP_001129074.2:p.Trp186Ter
NM_001317040.1:c.1094G>A	NP_001303969.1:p.Trp365Ter
NM_001317040.2:c.1094G>A	NP_001303969.2:p.Trp365Ter
NM_001393580.1:c.950G>A	NP_001380509.1:p.Trp317Ter
ENST00000307363.9:c.950G>A	ENSP00000306920.4:p.Trp317Ter
ENST00000307377.12:c.557G>A	ENSP00000305920.8:p.Trp186Ter
ENST00000399402.7:c.860G>A	ENSP00000382333.2:p.Trp287Ter
ENST00000415454.1:c.473G>A	ENSP00000411813.1:p.Trp158Ter
ENST00000482097.5:n.325G>A
ENST00000485698.5:n.353G>A
ENST00000498537.5:n.476G>A