Canonical Allele Identifier: CA72667846

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33051762C>T , CM000665.2:g.33051762C>T	GRCh38
NC_000003.11:g.33093254C>T , CM000665.1:g.33093254C>T	GRCh37
NC_000003.10:g.33068258C>T	NCBI36
NG_009005.1:g.50441G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.951G>A MANE Select	NP_000395.3:p.Trp317Ter
ENST00000307363.10:c.951G>A MANE Select	ENSP00000306920.4:p.Trp317Ter
NM_000404.2:c.951G>A	NP_000395.2:p.Trp317Ter
NM_000404.3:c.951G>A	NP_000395.2:p.Trp317Ter
NM_001079811.1:c.861G>A	NP_001073279.1:p.Trp287Ter
NM_001079811.2:c.861G>A	NP_001073279.1:p.Trp287Ter
NM_001079811.3:c.861G>A	NP_001073279.2:p.Trp287Ter
NM_001135602.1:c.558G>A	NP_001129074.1:p.Trp186Ter
NM_001135602.2:c.558G>A	NP_001129074.1:p.Trp186Ter
NM_001135602.3:c.558G>A	NP_001129074.2:p.Trp186Ter
NM_001317040.1:c.1095G>A	NP_001303969.1:p.Trp365Ter
NM_001317040.2:c.1095G>A	NP_001303969.2:p.Trp365Ter
NM_001393580.1:c.951G>A	NP_001380509.1:p.Trp317Ter
ENST00000307363.9:c.951G>A	ENSP00000306920.4:p.Trp317Ter
ENST00000307377.12:c.558G>A	ENSP00000305920.8:p.Trp186Ter
ENST00000399402.7:c.861G>A	ENSP00000382333.2:p.Trp287Ter
ENST00000415454.1:c.474G>A	ENSP00000411813.1:p.Trp158Ter
ENST00000482097.5:n.326G>A
ENST00000485698.5:n.354G>A
ENST00000498537.5:n.477G>A