Canonical Allele Identifier: CA352000553

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997227C>T , CM000665.2:g.32997227C>T	GRCh38
NC_000003.11:g.33038719C>T , CM000665.1:g.33038719C>T	GRCh37
NC_000003.10:g.33013723C>T	NCBI36
NG_009005.1:g.104976G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1852G>A MANE Select	ENSP00000306920.4:p.Val618Met
ENST00000307363.9:c.1852G>A	ENSP00000306920.4:p.Val618Met
ENST00000307377.12:c.1459G>A	ENSP00000305920.8:p.Val487Met
ENST00000399402.7:c.1762G>A	ENSP00000382333.2:p.Val588Met
NM_000404.2:c.1852G>A	NP_000395.2:p.Val618Met
NM_000404.3:c.1852G>A	NP_000395.2:p.Val618Met
NM_001079811.1:c.1762G>A	NP_001073279.1:p.Val588Met
NM_001079811.2:c.1762G>A	NP_001073279.1:p.Val588Met
NM_001135602.1:c.1459G>A	NP_001129074.1:p.Val487Met
NM_001135602.2:c.1459G>A	NP_001129074.1:p.Val487Met
NM_001317040.1:c.1996G>A	NP_001303969.1:p.Val666Met
NM_000404.4:c.1852G>A MANE Select	NP_000395.3:p.Val618Met
NM_001079811.3:c.1762G>A	NP_001073279.2:p.Val588Met
NM_001135602.3:c.1459G>A	NP_001129074.2:p.Val487Met
NM_001317040.2:c.1996G>A	NP_001303969.2:p.Val666Met
NM_001393580.1:c.1734+16829G>A	NP_001380509.1:n.1734+16829G>A