Canonical Allele Identifier: CA351985981
Gene: GLB1 HGNC NCBI

Linked Data

gnomAD v4: 3-33014198-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33014198T>C , CM000665.2:g.33014198T>C GRCh38
NC_000003.11:g.33055690T>C , CM000665.1:g.33055690T>C GRCh37
NC_000003.10:g.33030694T>C NCBI36
NG_009005.1:g.88005A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307363.10:c.1592A>G MANE Select ENSP00000306920.4:p.Asp531Gly
ENST00000307363.9:c.1592A>G ENSP00000306920.4:p.Asp531Gly
ENST00000307377.12:c.1199A>G ENSP00000305920.8:p.Asp400Gly
ENST00000399402.7:c.1502A>G ENSP00000382333.2:p.Asp501Gly
ENST00000461475.5:n.691A>G
ENST00000497796.5:n.844A>G
NM_000404.2:c.1592A>G NP_000395.2:p.Asp531Gly
NM_000404.3:c.1592A>G NP_000395.2:p.Asp531Gly
NM_001079811.1:c.1502A>G NP_001073279.1:p.Asp501Gly
NM_001079811.2:c.1502A>G NP_001073279.1:p.Asp501Gly
NM_001135602.1:c.1199A>G NP_001129074.1:p.Asp400Gly
NM_001135602.2:c.1199A>G NP_001129074.1:p.Asp400Gly
NM_001317040.1:c.1736A>G NP_001303969.1:p.Asp579Gly
NM_000404.4:c.1592A>G MANE Select NP_000395.3:p.Asp531Gly
NM_001079811.3:c.1502A>G NP_001073279.2:p.Asp501Gly
NM_001135602.3:c.1199A>G NP_001129074.2:p.Asp400Gly
NM_001317040.2:c.1736A>G NP_001303969.2:p.Asp579Gly
NM_001393580.1:c.1592A>G NP_001380509.1:p.Asp531Gly