Canonical Allele Identifier: CA351995044

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33024272A>C , CM000665.2:g.33024272A>C	GRCh38
NC_000003.11:g.33065764A>C , CM000665.1:g.33065764A>C	GRCh37
NC_000003.10:g.33040768A>C	NCBI36
NG_009005.1:g.77931T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.1122T>G MANE Select	NP_000395.3:p.Tyr374Ter
ENST00000307363.10:c.1122T>G MANE Select	ENSP00000306920.4:p.Tyr374Ter
NM_000404.2:c.1122T>G	NP_000395.2:p.Tyr374Ter
NM_000404.3:c.1122T>G	NP_000395.2:p.Tyr374Ter
NM_001079811.1:c.1032T>G	NP_001073279.1:p.Tyr344Ter
NM_001079811.2:c.1032T>G	NP_001073279.1:p.Tyr344Ter
NM_001079811.3:c.1032T>G	NP_001073279.2:p.Tyr344Ter
NM_001135602.1:c.729T>G	NP_001129074.1:p.Tyr243Ter
NM_001135602.2:c.729T>G	NP_001129074.1:p.Tyr243Ter
NM_001135602.3:c.729T>G	NP_001129074.2:p.Tyr243Ter
NM_001317040.1:c.1266T>G	NP_001303969.1:p.Tyr422Ter
NM_001317040.2:c.1266T>G	NP_001303969.2:p.Tyr422Ter
NM_001393580.1:c.1122T>G	NP_001380509.1:p.Tyr374Ter
ENST00000307363.9:c.1122T>G	ENSP00000306920.4:p.Tyr374Ter
ENST00000307377.12:c.729T>G	ENSP00000305920.8:p.Tyr243Ter
ENST00000399402.7:c.1032T>G	ENSP00000382333.2:p.Tyr344Ter
ENST00000461475.5:n.221T>G
ENST00000467571.5:n.159T>G
ENST00000473477.1:n.154T>G
ENST00000482097.5:n.497T>G
ENST00000485698.5:n.525T>G
ENST00000497796.5:n.374T>G
XR_001740634.1:n.1613-1268A>C