Canonical Allele Identifier: CA351989524

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33016800A>G , CM000665.2:g.33016800A>G	GRCh38
NC_000003.11:g.33058292A>G , CM000665.1:g.33058292A>G	GRCh37
NC_000003.10:g.33033296A>G	NCBI36
NG_009005.1:g.85403T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.1388T>C MANE Select	NP_000395.3:p.Leu463Pro
ENST00000307363.10:c.1388T>C MANE Select	ENSP00000306920.4:p.Leu463Pro
NM_000404.2:c.1388T>C	NP_000395.2:p.Leu463Pro
NM_000404.3:c.1388T>C	NP_000395.2:p.Leu463Pro
NM_001079811.1:c.1298T>C	NP_001073279.1:p.Leu433Pro
NM_001079811.2:c.1298T>C	NP_001073279.1:p.Leu433Pro
NM_001079811.3:c.1298T>C	NP_001073279.2:p.Leu433Pro
NM_001135602.1:c.995T>C	NP_001129074.1:p.Leu332Pro
NM_001135602.2:c.995T>C	NP_001129074.1:p.Leu332Pro
NM_001135602.3:c.995T>C	NP_001129074.2:p.Leu332Pro
NM_001317040.1:c.1532T>C	NP_001303969.1:p.Leu511Pro
NM_001317040.2:c.1532T>C	NP_001303969.2:p.Leu511Pro
NM_001393580.1:c.1388T>C	NP_001380509.1:p.Leu463Pro
ENST00000307363.9:c.1388T>C	ENSP00000306920.4:p.Leu463Pro
ENST00000307377.12:c.995T>C	ENSP00000305920.8:p.Leu332Pro
ENST00000399402.7:c.1298T>C	ENSP00000382333.2:p.Leu433Pro
ENST00000461475.5:n.487T>C
ENST00000467571.5:n.425T>C
ENST00000497796.5:n.640T>C