Canonical Allele Identifier: CA72685179

Linked Data

ClinVar Variation Id: 1191383
ClinVar RCV Id: RCV001552438
dbSNP Id: rs149553048
gnomAD v2: 3-33138413-C-A
gnomAD v3: 3-33096921-C-A
gnomAD v4: 3-33096921-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33096921C>A , CM000665.2:g.33096921C>A GRCh38
NC_000003.11:g.33138413C>A , CM000665.1:g.33138413C>A GRCh37
NC_000003.10:g.33113417C>A NCBI36
NG_009005.1:g.5282G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307363.10:c.75+90G>T (GLB1) MANE Select ENSP00000306920.4:n.75+90G>T
ENST00000342462.5:c.-311G>T (TMPPE) MANE Select ENSP00000343398.4:n.-311G>T
ENST00000307363.9:c.75+90G>T (GLB1) ENSP00000306920.4:n.75+90G>T
ENST00000307377.12:c.75+90G>T (GLB1) ENSP00000305920.8:n.75+90G>T
ENST00000415454.1:c.75+90G>T (GLB1) ENSP00000411813.1:n.75+90G>T
ENST00000436768.1:c.75+90G>T (GLB1) ENSP00000387989.1:n.75+90G>T
ENST00000438227.1:c.75+90G>T (GLB1) ENSP00000401250.1:n.75+90G>T
ENST00000440656.1:c.-149+90G>T (GLB1) ENSP00000411769.1:n.-149+90G>T
ENST00000464355.1:n.33+90G>T (GLB1)
ENST00000482097.5:n.108+90G>T (GLB1)
ENST00000485698.5:n.136+90G>T (GLB1)
ENST00000498537.5:n.132+90G>T (GLB1)
NM_000404.2:c.75+90G>T (GLB1) NP_000395.2:n.75+90G>T
NM_000404.3:c.75+90G>T (GLB1) NP_000395.2:n.75+90G>T
NM_001135602.1:c.75+90G>T (GLB1) NP_001129074.1:n.75+90G>T
NM_001135602.2:c.75+90G>T (GLB1) NP_001129074.1:n.75+90G>T
NM_001317040.1:c.75+90G>T (GLB1) NP_001303969.1:n.75+90G>T
NM_000404.4:c.75+90G>T (GLB1) MANE Select NP_000395.3:n.75+90G>T
NM_001039770.3:c.-311G>T (TMPPE) MANE Select NP_001034859.2:n.-311G>T
NM_001136238.2:c.-207G>T (TMPPE) NP_001129710.1:n.-207G>T
NM_001135602.3:c.75+90G>T (GLB1) NP_001129074.2:n.75+90G>T
NM_001317040.2:c.75+90G>T (GLB1) NP_001303969.2:n.75+90G>T
NM_001393580.1:c.75+90G>T (GLB1) NP_001380509.1:n.75+90G>T