Canonical Allele Identifier: CA352000973

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33051776T>C , CM000665.2:g.33051776T>C	GRCh38
NC_000003.11:g.33093268T>C , CM000665.1:g.33093268T>C	GRCh37
NC_000003.10:g.33068272T>C	NCBI36
NG_009005.1:g.50427A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.937A>G MANE Select	NP_000395.3:p.Asn313Asp
ENST00000307363.10:c.937A>G MANE Select	ENSP00000306920.4:p.Asn313Asp
NM_000404.2:c.937A>G	NP_000395.2:p.Asn313Asp
NM_000404.3:c.937A>G	NP_000395.2:p.Asn313Asp
NM_001079811.1:c.847A>G	NP_001073279.1:p.Asn283Asp
NM_001079811.2:c.847A>G	NP_001073279.1:p.Asn283Asp
NM_001079811.3:c.847A>G	NP_001073279.2:p.Asn283Asp
NM_001135602.1:c.544A>G	NP_001129074.1:p.Asn182Asp
NM_001135602.2:c.544A>G	NP_001129074.1:p.Asn182Asp
NM_001135602.3:c.544A>G	NP_001129074.2:p.Asn182Asp
NM_001317040.1:c.1081A>G	NP_001303969.1:p.Asn361Asp
NM_001317040.2:c.1081A>G	NP_001303969.2:p.Asn361Asp
NM_001393580.1:c.937A>G	NP_001380509.1:p.Asn313Asp
ENST00000307363.9:c.937A>G	ENSP00000306920.4:p.Asn313Asp
ENST00000307377.12:c.544A>G	ENSP00000305920.8:p.Asn182Asp
ENST00000399402.7:c.847A>G	ENSP00000382333.2:p.Asn283Asp
ENST00000415454.1:c.460A>G	ENSP00000411813.1:p.Asn154Asp
ENST00000482097.5:n.312A>G
ENST00000485698.5:n.340A>G
ENST00000498537.5:n.463A>G