Canonical Allele Identifier: CA72685361

Gene: GLB1 TMPPE

Linked Data

• ClinVar Variation Id: 1142155
• ClinVar RCV Id: RCV001479824
• dbSNP Id: rs905194921
• gnomAD v2: 3-33138551-G-A
• gnomAD v3: 3-33097059-G-A
• gnomAD v4: 3-33097059-G-A
• MyVariant Identifiers: chr3:g.33138551G>A (hg19) ; chr3:g.33097059G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33097059G>A , CM000665.2:g.33097059G>A	GRCh38
NC_000003.11:g.33138551G>A , CM000665.1:g.33138551G>A	GRCh37
NC_000003.10:g.33113555G>A	NCBI36
NG_009005.1:g.5144C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.27C>T (GLB1) MANE Select	ENSP00000306920.4:p.Leu9=
ENST00000342462.5:c.-449C>T (TMPPE) MANE Select	ENSP00000343398.4:n.-449C>T
ENST00000307363.9:c.27C>T (GLB1)	ENSP00000306920.4:p.Leu9=
ENST00000307377.12:c.27C>T (GLB1)	ENSP00000305920.8:p.Leu9=
ENST00000415454.1:c.27C>T (GLB1)	ENSP00000411813.1:p.Leu9=
ENST00000436768.1:c.27C>T (GLB1)	ENSP00000387989.1:p.Leu9=
ENST00000438227.1:c.27C>T (GLB1)	ENSP00000401250.1:p.Leu9=
ENST00000440656.1:c.-197C>T (GLB1)	ENSP00000411769.1:n.-197C>T
ENST00000482097.5:n.60C>T (GLB1)
ENST00000485698.5:n.88C>T (GLB1)
ENST00000498537.5:n.84C>T (GLB1)
NM_000404.2:c.27C>T (GLB1)	NP_000395.2:p.Leu9=
NM_000404.3:c.27C>T (GLB1)	NP_000395.2:p.Leu9=
NM_001135602.1:c.27C>T (GLB1)	NP_001129074.1:p.Leu9=
NM_001135602.2:c.27C>T (GLB1)	NP_001129074.1:p.Leu9=
NM_001317040.1:c.27C>T (GLB1)	NP_001303969.1:p.Leu9=
NM_000404.4:c.27C>T (GLB1) MANE Select	NP_000395.3:p.Leu9=
NM_001039770.3:c.-449C>T (TMPPE) MANE Select	NP_001034859.2:n.-449C>T
NM_001136238.2:c.-345C>T (TMPPE)	NP_001129710.1:n.-345C>T
NM_001135602.3:c.27C>T (GLB1)	NP_001129074.2:p.Leu9=
NM_001317040.2:c.27C>T (GLB1)	NP_001303969.2:p.Leu9=
NM_001393580.1:c.27C>T (GLB1)	NP_001380509.1:p.Leu9=