Canonical Allele Identifier: CA352000372

Gene: GLB1

Linked Data

• dbSNP Id: rs1010741154
• MyVariant Identifiers: chr3:g.33038677C>T (hg19) ; chr3:g.32997185C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997185C>T , CM000665.2:g.32997185C>T	GRCh38
NC_000003.11:g.33038677C>T , CM000665.1:g.33038677C>T	GRCh37
NC_000003.10:g.33013681C>T	NCBI36
NG_009005.1:g.105018G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1894G>A MANE Select	ENSP00000306920.4:p.Glu632Lys
ENST00000307363.9:c.1894G>A	ENSP00000306920.4:p.Glu632Lys
ENST00000307377.12:c.1501G>A	ENSP00000305920.8:p.Glu501Lys
ENST00000399402.7:c.1804G>A	ENSP00000382333.2:p.Glu602Lys
NM_000404.2:c.1894G>A	NP_000395.2:p.Glu632Lys
NM_000404.3:c.1894G>A	NP_000395.2:p.Glu632Lys
NM_001079811.1:c.1804G>A	NP_001073279.1:p.Glu602Lys
NM_001079811.2:c.1804G>A	NP_001073279.1:p.Glu602Lys
NM_001135602.1:c.1501G>A	NP_001129074.1:p.Glu501Lys
NM_001135602.2:c.1501G>A	NP_001129074.1:p.Glu501Lys
NM_001317040.1:c.2038G>A	NP_001303969.1:p.Glu680Lys
NM_000404.4:c.1894G>A MANE Select	NP_000395.3:p.Glu632Lys
NM_001079811.3:c.1804G>A	NP_001073279.2:p.Glu602Lys
NM_001135602.3:c.1501G>A	NP_001129074.2:p.Glu501Lys
NM_001317040.2:c.2038G>A	NP_001303969.2:p.Glu680Lys
NM_001393580.1:c.1734+16871G>A	NP_001380509.1:n.1734+16871G>A