Canonical Allele Identifier: CA146079

Gene: GLB1 TMPPE

Linked Data

• ClinVar Variation Id: 92905
• ClinVar RCV Id: RCV000078712 ; RCV000302471 ; RCV000675687 ; RCV000392270 ; RCV001518401 ; RCV001527572 ; RCV001701492 ; RCV001701493
• dbSNP Id: rs7614776
• ExAC: 3:33138544 A / G
• gnomAD v2: 3-33138544-A-G
• gnomAD v3: 3-33097052-A-G
• gnomAD v4: 3-33097052-A-G
• MyVariant Identifiers: chr3:g.33138544A>G (hg19) ; chr3:g.33097052A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33097052A>G , CM000665.2:g.33097052A>G	GRCh38
NC_000003.11:g.33138544A>G , CM000665.1:g.33138544A>G	GRCh37
NC_000003.10:g.33113548A>G	NCBI36
NG_009005.1:g.5151T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.34T>C (GLB1) MANE Select	ENSP00000306920.4:p.Leu12=
ENST00000342462.5:c.-442T>C (TMPPE) MANE Select	ENSP00000343398.4:n.-442T>C
ENST00000307363.9:c.34T>C (GLB1)	ENSP00000306920.4:p.Leu12=
ENST00000307377.12:c.34T>C (GLB1)	ENSP00000305920.8:p.Leu12=
ENST00000415454.1:c.34T>C (GLB1)	ENSP00000411813.1:p.Leu12=
ENST00000436768.1:c.34T>C (GLB1)	ENSP00000387989.1:p.Leu12=
ENST00000438227.1:c.34T>C (GLB1)	ENSP00000401250.1:p.Leu12=
ENST00000440656.1:c.-190T>C (GLB1)	ENSP00000411769.1:n.-190T>C
ENST00000482097.5:n.67T>C (GLB1)
ENST00000485698.5:n.95T>C (GLB1)
ENST00000498537.5:n.91T>C (GLB1)
NM_000404.2:c.34T>C (GLB1)	NP_000395.2:p.Leu12=
NM_000404.3:c.34T>C (GLB1)	NP_000395.2:p.Leu12=
NM_001135602.1:c.34T>C (GLB1)	NP_001129074.1:p.Leu12=
NM_001135602.2:c.34T>C (GLB1)	NP_001129074.1:p.Leu12=
NM_001317040.1:c.34T>C (GLB1)	NP_001303969.1:p.Leu12=
NM_000404.4:c.34T>C (GLB1) MANE Select	NP_000395.3:p.Leu12=
NM_001039770.3:c.-442T>C (TMPPE) MANE Select	NP_001034859.2:n.-442T>C
NM_001136238.2:c.-338T>C (TMPPE)	NP_001129710.1:n.-338T>C
NM_001135602.3:c.34T>C (GLB1)	NP_001129074.2:p.Leu12=
NM_001317040.2:c.34T>C (GLB1)	NP_001303969.2:p.Leu12=
NM_001393580.1:c.34T>C (GLB1)	NP_001380509.1:p.Leu12=