Canonical Allele Identifier: CA2577540131

Gene: GLB1 TMPPE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33096785G>C , CM000665.2:g.33096785G>C	GRCh38
NC_000003.11:g.33138277G>C , CM000665.1:g.33138277G>C	GRCh37
NC_000003.10:g.33113281G>C	NCBI36
NG_009005.1:g.5418C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.75+226C>G (GLB1) MANE Select	ENSP00000306920.4:n.75+226C>G
ENST00000342462.5:c.-175C>G (TMPPE) MANE Select	ENSP00000343398.4:n.-175C>G
ENST00000307363.9:c.75+226C>G (GLB1)	ENSP00000306920.4:n.75+226C>G
ENST00000307377.12:c.75+226C>G (GLB1)	ENSP00000305920.8:n.75+226C>G
ENST00000342462.4:c.-175C>G (TMPPE)	ENSP00000343398.4:n.-175C>G
ENST00000399402.7:c.-82C>G (GLB1)	ENSP00000382333.2:n.-82C>G
ENST00000415454.1:c.75+226C>G (GLB1)	ENSP00000411813.1:n.75+226C>G
ENST00000416695.6:c.-71C>G (TMPPE)	ENSP00000400715.2:n.-71C>G
ENST00000436768.1:c.75+226C>G (GLB1)	ENSP00000387989.1:n.75+226C>G
ENST00000438227.1:c.75+226C>G (GLB1)	ENSP00000401250.1:n.75+226C>G
ENST00000440656.1:c.-149+226C>G (GLB1)	ENSP00000411769.1:n.-149+226C>G
ENST00000450835.1:c.-226C>G (GLB1)	ENSP00000403264.1:n.-226C>G
ENST00000464355.1:n.33+226C>G (GLB1)
ENST00000482097.5:n.108+226C>G (GLB1)
ENST00000485698.5:n.136+226C>G (GLB1)
ENST00000498537.5:n.132+226C>G (GLB1)
NM_000404.2:c.75+226C>G (GLB1)	NP_000395.2:n.75+226C>G
NM_000404.3:c.75+226C>G (GLB1)	NP_000395.2:n.75+226C>G
NM_001039770.2:c.-175C>G (TMPPE)	NP_001034859.2:n.-175C>G
NM_001079811.1:c.-82C>G (GLB1)	NP_001073279.1:n.-82C>G
NM_001079811.2:c.-82C>G (GLB1)	NP_001073279.1:n.-82C>G
NM_001135602.1:c.75+226C>G (GLB1)	NP_001129074.1:n.75+226C>G
NM_001135602.2:c.75+226C>G (GLB1)	NP_001129074.1:n.75+226C>G
NM_001136238.1:c.-71C>G (TMPPE)	NP_001129710.1:n.-71C>G
NM_001317040.1:c.75+226C>G (GLB1)	NP_001303969.1:n.75+226C>G
NM_000404.4:c.75+226C>G (GLB1) MANE Select	NP_000395.3:n.75+226C>G
NM_001039770.3:c.-175C>G (TMPPE) MANE Select	NP_001034859.2:n.-175C>G
NM_001136238.2:c.-71C>G (TMPPE)	NP_001129710.1:n.-71C>G
NM_001079811.3:c.-82C>G (GLB1)	NP_001073279.2:n.-82C>G
NM_001135602.3:c.75+226C>G (GLB1)	NP_001129074.2:n.75+226C>G
NM_001317040.2:c.75+226C>G (GLB1)	NP_001303969.2:n.75+226C>G
NM_001393580.1:c.75+226C>G (GLB1)	NP_001380509.1:n.75+226C>G