Canonical Allele Identifier: CA2299554

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33051775T>C , CM000665.2:g.33051775T>C	GRCh38
NC_000003.11:g.33093267T>C , CM000665.1:g.33093267T>C	GRCh37
NC_000003.10:g.33068271T>C	NCBI36
NG_009005.1:g.50428A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.938A>G MANE Select	NP_000395.3:p.Asn313Ser
ENST00000307363.10:c.938A>G MANE Select	ENSP00000306920.4:p.Asn313Ser
NM_000404.2:c.938A>G	NP_000395.2:p.Asn313Ser
NM_000404.3:c.938A>G	NP_000395.2:p.Asn313Ser
NM_001079811.1:c.848A>G	NP_001073279.1:p.Asn283Ser
NM_001079811.2:c.848A>G	NP_001073279.1:p.Asn283Ser
NM_001079811.3:c.848A>G	NP_001073279.2:p.Asn283Ser
NM_001135602.1:c.545A>G	NP_001129074.1:p.Asn182Ser
NM_001135602.2:c.545A>G	NP_001129074.1:p.Asn182Ser
NM_001135602.3:c.545A>G	NP_001129074.2:p.Asn182Ser
NM_001317040.1:c.1082A>G	NP_001303969.1:p.Asn361Ser
NM_001317040.2:c.1082A>G	NP_001303969.2:p.Asn361Ser
NM_001393580.1:c.938A>G	NP_001380509.1:p.Asn313Ser
ENST00000307363.9:c.938A>G	ENSP00000306920.4:p.Asn313Ser
ENST00000307377.12:c.545A>G	ENSP00000305920.8:p.Asn182Ser
ENST00000399402.7:c.848A>G	ENSP00000382333.2:p.Asn283Ser
ENST00000415454.1:c.461A>G	ENSP00000411813.1:p.Asn154Ser
ENST00000482097.5:n.313A>G
ENST00000485698.5:n.341A>G
ENST00000498537.5:n.464A>G