Canonical Allele Identifier: CA432953607
Gene: GLB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.33063094T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33021602T>C , CM000665.2:g.33021602T>C GRCh38
NC_000003.11:g.33063094T>C , CM000665.1:g.33063094T>C GRCh37
NC_000003.10:g.33038098T>C NCBI36
NG_009005.1:g.80601A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307363.10:c.1197A>G MANE Select ENSP00000306920.4:p.Lys399=
ENST00000307363.9:c.1197A>G ENSP00000306920.4:p.Lys399=
ENST00000307377.12:c.804A>G ENSP00000305920.8:p.Lys268=
ENST00000399402.7:c.1107A>G ENSP00000382333.2:p.Lys369=
ENST00000461475.5:n.296A>G
ENST00000467571.5:n.234A>G
ENST00000473477.1:n.229A>G
ENST00000497796.5:n.449A>G
NM_000404.2:c.1197A>G NP_000395.2:p.Lys399=
NM_000404.3:c.1197A>G NP_000395.2:p.Lys399=
NM_001079811.1:c.1107A>G NP_001073279.1:p.Lys369=
NM_001079811.2:c.1107A>G NP_001073279.1:p.Lys369=
NM_001135602.1:c.804A>G NP_001129074.1:p.Lys268=
NM_001135602.2:c.804A>G NP_001129074.1:p.Lys268=
NM_001317040.1:c.1341A>G NP_001303969.1:p.Lys447=
XR_001740634.1:n.1543-586T>C
NM_000404.4:c.1197A>G MANE Select NP_000395.3:p.Lys399=
NM_001079811.3:c.1107A>G NP_001073279.2:p.Lys369=
NM_001135602.3:c.804A>G NP_001129074.2:p.Lys268=
NM_001317040.2:c.1341A>G NP_001303969.2:p.Lys447=
NM_001393580.1:c.1197A>G NP_001380509.1:p.Lys399=