Canonical Allele Identifier: CA351993289

Gene: GLB1

Linked Data

• MyVariant Identifiers: chr3:g.33063121G>T (hg19) ; chr3:g.33021629G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33021629G>T , CM000665.2:g.33021629G>T	GRCh38
NC_000003.11:g.33063121G>T , CM000665.1:g.33063121G>T	GRCh37
NC_000003.10:g.33038125G>T	NCBI36
NG_009005.1:g.80574C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1170C>A MANE Select	ENSP00000306920.4:p.Asp390Glu
ENST00000307363.9:c.1170C>A	ENSP00000306920.4:p.Asp390Glu
ENST00000307377.12:c.777C>A	ENSP00000305920.8:p.Asp259Glu
ENST00000399402.7:c.1080C>A	ENSP00000382333.2:p.Asp360Glu
ENST00000461475.5:n.269C>A
ENST00000467571.5:n.207C>A
ENST00000473477.1:n.202C>A
ENST00000482097.5:n.545C>A
ENST00000497796.5:n.422C>A
NM_000404.2:c.1170C>A	NP_000395.2:p.Asp390Glu
NM_000404.3:c.1170C>A	NP_000395.2:p.Asp390Glu
NM_001079811.1:c.1080C>A	NP_001073279.1:p.Asp360Glu
NM_001079811.2:c.1080C>A	NP_001073279.1:p.Asp360Glu
NM_001135602.1:c.777C>A	NP_001129074.1:p.Asp259Glu
NM_001135602.2:c.777C>A	NP_001129074.1:p.Asp259Glu
NM_001317040.1:c.1314C>A	NP_001303969.1:p.Asp438Glu
XR_001740634.1:n.1543-559G>T
NM_000404.4:c.1170C>A MANE Select	NP_000395.3:p.Asp390Glu
NM_001079811.3:c.1080C>A	NP_001073279.2:p.Asp360Glu
NM_001135602.3:c.777C>A	NP_001129074.2:p.Asp259Glu
NM_001317040.2:c.1314C>A	NP_001303969.2:p.Asp438Glu
NM_001393580.1:c.1170C>A	NP_001380509.1:p.Asp390Glu