Canonical Allele Identifier: CA2299570

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33051895G>A , CM000665.2:g.33051895G>A	GRCh38
NC_000003.11:g.33093387G>A , CM000665.1:g.33093387G>A	GRCh37
NC_000003.10:g.33068391G>A	NCBI36
NG_009005.1:g.50308C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.902C>T MANE Select	NP_000395.3:p.Ala301Val
ENST00000307363.10:c.902C>T MANE Select	ENSP00000306920.4:p.Ala301Val
NM_000404.2:c.902C>T	NP_000395.2:p.Ala301Val
NM_000404.3:c.902C>T	NP_000395.2:p.Ala301Val
NM_001079811.1:c.812C>T	NP_001073279.1:p.Ala271Val
NM_001079811.2:c.812C>T	NP_001073279.1:p.Ala271Val
NM_001079811.3:c.812C>T	NP_001073279.2:p.Ala271Val
NM_001135602.1:c.509C>T	NP_001129074.1:p.Ala170Val
NM_001135602.2:c.509C>T	NP_001129074.1:p.Ala170Val
NM_001135602.3:c.509C>T	NP_001129074.2:p.Ala170Val
NM_001317040.1:c.1046C>T	NP_001303969.1:p.Ala349Val
NM_001317040.2:c.1046C>T	NP_001303969.2:p.Ala349Val
NM_001393580.1:c.902C>T	NP_001380509.1:p.Ala301Val
ENST00000307363.9:c.902C>T	ENSP00000306920.4:p.Ala301Val
ENST00000307377.12:c.509C>T	ENSP00000305920.8:p.Ala170Val
ENST00000399402.7:c.812C>T	ENSP00000382333.2:p.Ala271Val
ENST00000415454.1:c.425C>T	ENSP00000411813.1:p.Ala142Val
ENST00000446732.5:c.*345C>T	ENSP00000407365.1:n.*345C>T
ENST00000482097.5:n.277C>T
ENST00000485698.5:n.305C>T
ENST00000498537.5:n.428C>T