Canonical Allele Identifier: CA351986836

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33014292T>A , CM000665.2:g.33014292T>A	GRCh38
NC_000003.11:g.33055784T>A , CM000665.1:g.33055784T>A	GRCh37
NC_000003.10:g.33030788T>A	NCBI36
NG_009005.1:g.87911A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1498A>T MANE Select	ENSP00000306920.4:p.Thr500Ser
ENST00000307363.9:c.1498A>T	ENSP00000306920.4:p.Thr500Ser
ENST00000307377.12:c.1105A>T	ENSP00000305920.8:p.Thr369Ser
ENST00000399402.7:c.1408A>T	ENSP00000382333.2:p.Thr470Ser
ENST00000461475.5:n.597A>T
ENST00000497796.5:n.750A>T
NM_000404.2:c.1498A>T	NP_000395.2:p.Thr500Ser
NM_000404.3:c.1498A>T	NP_000395.2:p.Thr500Ser
NM_001079811.1:c.1408A>T	NP_001073279.1:p.Thr470Ser
NM_001079811.2:c.1408A>T	NP_001073279.1:p.Thr470Ser
NM_001135602.1:c.1105A>T	NP_001129074.1:p.Thr369Ser
NM_001135602.2:c.1105A>T	NP_001129074.1:p.Thr369Ser
NM_001317040.1:c.1642A>T	NP_001303969.1:p.Thr548Ser
NM_000404.4:c.1498A>T MANE Select	NP_000395.3:p.Thr500Ser
NM_001079811.3:c.1408A>T	NP_001073279.2:p.Thr470Ser
NM_001135602.3:c.1105A>T	NP_001129074.2:p.Thr369Ser
NM_001317040.2:c.1642A>T	NP_001303969.2:p.Thr548Ser
NM_001393580.1:c.1498A>T	NP_001380509.1:p.Thr500Ser