Canonical Allele Identifier: CA352007448

Linked Data

ClinVar Variation Id: 2185797
ClinVar RCV Id: RCV002619839
dbSNP Id: rs1240673584
gnomAD v2: 3-33138511-C-T
gnomAD v3: 3-33097019-C-T
gnomAD v4: 3-33097019-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33097019C>T , CM000665.2:g.33097019C>T GRCh38
NC_000003.11:g.33138511C>T , CM000665.1:g.33138511C>T GRCh37
NC_000003.10:g.33113515C>T NCBI36
NG_009005.1:g.5184G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307363.10:c.67G>A (GLB1) MANE Select ENSP00000306920.4:p.Gly23Ser
ENST00000342462.5:c.-409G>A (TMPPE) MANE Select ENSP00000343398.4:n.-409G>A
ENST00000307363.9:c.67G>A (GLB1) ENSP00000306920.4:p.Gly23Ser
ENST00000307377.12:c.67G>A (GLB1) ENSP00000305920.8:p.Gly23Ser
ENST00000415454.1:c.67G>A (GLB1) ENSP00000411813.1:p.Gly23Ser
ENST00000436768.1:c.67G>A (GLB1) ENSP00000387989.1:p.Gly23Ser
ENST00000438227.1:c.67G>A (GLB1) ENSP00000401250.1:p.Gly23Ser
ENST00000440656.1:c.-157G>A (GLB1) ENSP00000411769.1:n.-157G>A
ENST00000464355.1:n.25G>A (GLB1)
ENST00000482097.5:n.100G>A (GLB1)
ENST00000485698.5:n.128G>A (GLB1)
ENST00000498537.5:n.124G>A (GLB1)
NM_000404.2:c.67G>A (GLB1) NP_000395.2:p.Gly23Ser
NM_000404.3:c.67G>A (GLB1) NP_000395.2:p.Gly23Ser
NM_001135602.1:c.67G>A (GLB1) NP_001129074.1:p.Gly23Ser
NM_001135602.2:c.67G>A (GLB1) NP_001129074.1:p.Gly23Ser
NM_001317040.1:c.67G>A (GLB1) NP_001303969.1:p.Gly23Ser
NM_000404.4:c.67G>A (GLB1) MANE Select NP_000395.3:p.Gly23Ser
NM_001039770.3:c.-409G>A (TMPPE) MANE Select NP_001034859.2:n.-409G>A
NM_001136238.2:c.-305G>A (TMPPE) NP_001129710.1:n.-305G>A
NM_001135602.3:c.67G>A (GLB1) NP_001129074.2:p.Gly23Ser
NM_001317040.2:c.67G>A (GLB1) NP_001303969.2:p.Gly23Ser
NM_001393580.1:c.67G>A (GLB1) NP_001380509.1:p.Gly23Ser