Canonical Allele Identifier: CA352007464

Gene: GLB1 TMPPE

Linked Data

• dbSNP Id: rs1462909018
• gnomAD v2: 3-33138522-C-T
• MyVariant Identifiers: chr3:g.33138522C>T (hg19) ; chr3:g.33097030C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33097030C>T , CM000665.2:g.33097030C>T	GRCh38
NC_000003.11:g.33138522C>T , CM000665.1:g.33138522C>T	GRCh37
NC_000003.10:g.33113526C>T	NCBI36
NG_009005.1:g.5173G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.56G>A (GLB1) MANE Select	ENSP00000306920.4:p.Gly19Asp
ENST00000342462.5:c.-420G>A (TMPPE) MANE Select	ENSP00000343398.4:n.-420G>A
ENST00000307363.9:c.56G>A (GLB1)	ENSP00000306920.4:p.Gly19Asp
ENST00000307377.12:c.56G>A (GLB1)	ENSP00000305920.8:p.Gly19Asp
ENST00000415454.1:c.56G>A (GLB1)	ENSP00000411813.1:p.Gly19Asp
ENST00000436768.1:c.56G>A (GLB1)	ENSP00000387989.1:p.Gly19Asp
ENST00000438227.1:c.56G>A (GLB1)	ENSP00000401250.1:p.Gly19Asp
ENST00000440656.1:c.-168G>A (GLB1)	ENSP00000411769.1:n.-168G>A
ENST00000464355.1:n.14G>A (GLB1)
ENST00000482097.5:n.89G>A (GLB1)
ENST00000485698.5:n.117G>A (GLB1)
ENST00000498537.5:n.113G>A (GLB1)
NM_000404.2:c.56G>A (GLB1)	NP_000395.2:p.Gly19Asp
NM_000404.3:c.56G>A (GLB1)	NP_000395.2:p.Gly19Asp
NM_001135602.1:c.56G>A (GLB1)	NP_001129074.1:p.Gly19Asp
NM_001135602.2:c.56G>A (GLB1)	NP_001129074.1:p.Gly19Asp
NM_001317040.1:c.56G>A (GLB1)	NP_001303969.1:p.Gly19Asp
NM_000404.4:c.56G>A (GLB1) MANE Select	NP_000395.3:p.Gly19Asp
NM_001039770.3:c.-420G>A (TMPPE) MANE Select	NP_001034859.2:n.-420G>A
NM_001136238.2:c.-316G>A (TMPPE)	NP_001129710.1:n.-316G>A
NM_001135602.3:c.56G>A (GLB1)	NP_001129074.2:p.Gly19Asp
NM_001317040.2:c.56G>A (GLB1)	NP_001303969.2:p.Gly19Asp
NM_001393580.1:c.56G>A (GLB1)	NP_001380509.1:p.Gly19Asp