Canonical Allele Identifier: CA432952525
Gene: GLB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.33055560A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33014068A>C , CM000665.2:g.33014068A>C GRCh38
NC_000003.11:g.33055560A>C , CM000665.1:g.33055560A>C GRCh37
NC_000003.10:g.33030564A>C NCBI36
NG_009005.1:g.88135T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307363.10:c.1722T>G MANE Select ENSP00000306920.4:p.Pro574=
ENST00000307363.9:c.1722T>G ENSP00000306920.4:p.Pro574=
ENST00000307377.12:c.1329T>G ENSP00000305920.8:p.Pro443=
ENST00000399402.7:c.1632T>G ENSP00000382333.2:p.Pro544=
NM_000404.2:c.1722T>G NP_000395.2:p.Pro574=
NM_000404.3:c.1722T>G NP_000395.2:p.Pro574=
NM_001079811.1:c.1632T>G NP_001073279.1:p.Pro544=
NM_001079811.2:c.1632T>G NP_001073279.1:p.Pro544=
NM_001135602.1:c.1329T>G NP_001129074.1:p.Pro443=
NM_001135602.2:c.1329T>G NP_001129074.1:p.Pro443=
NM_001317040.1:c.1866T>G NP_001303969.1:p.Pro622=
NM_000404.4:c.1722T>G MANE Select NP_000395.3:p.Pro574=
NM_001079811.3:c.1632T>G NP_001073279.2:p.Pro544=
NM_001135602.3:c.1329T>G NP_001129074.2:p.Pro443=
NM_001317040.2:c.1866T>G NP_001303969.2:p.Pro622=
NM_001393580.1:c.1722T>G NP_001380509.1:p.Pro574=