Canonical Allele Identifier: CA352007442

Gene: GLB1 TMPPE

Linked Data

• MyVariant Identifiers: chr3:g.33138507A>G (hg19) ; chr3:g.33097015A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33097015A>G , CM000665.2:g.33097015A>G	GRCh38
NC_000003.11:g.33138507A>G , CM000665.1:g.33138507A>G	GRCh37
NC_000003.10:g.33113511A>G	NCBI36
NG_009005.1:g.5188T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.71T>C (GLB1) MANE Select	ENSP00000306920.4:p.Leu24Ser
ENST00000342462.5:c.-405T>C (TMPPE) MANE Select	ENSP00000343398.4:n.-405T>C
ENST00000307363.9:c.71T>C (GLB1)	ENSP00000306920.4:p.Leu24Ser
ENST00000307377.12:c.71T>C (GLB1)	ENSP00000305920.8:p.Leu24Ser
ENST00000415454.1:c.71T>C (GLB1)	ENSP00000411813.1:p.Leu24Ser
ENST00000436768.1:c.71T>C (GLB1)	ENSP00000387989.1:p.Leu24Ser
ENST00000438227.1:c.71T>C (GLB1)	ENSP00000401250.1:p.Leu24Ser
ENST00000440656.1:c.-153T>C (GLB1)	ENSP00000411769.1:n.-153T>C
ENST00000464355.1:n.29T>C (GLB1)
ENST00000482097.5:n.104T>C (GLB1)
ENST00000485698.5:n.132T>C (GLB1)
ENST00000498537.5:n.128T>C (GLB1)
NM_000404.2:c.71T>C (GLB1)	NP_000395.2:p.Leu24Ser
NM_000404.3:c.71T>C (GLB1)	NP_000395.2:p.Leu24Ser
NM_001135602.1:c.71T>C (GLB1)	NP_001129074.1:p.Leu24Ser
NM_001135602.2:c.71T>C (GLB1)	NP_001129074.1:p.Leu24Ser
NM_001317040.1:c.71T>C (GLB1)	NP_001303969.1:p.Leu24Ser
NM_000404.4:c.71T>C (GLB1) MANE Select	NP_000395.3:p.Leu24Ser
NM_001039770.3:c.-405T>C (TMPPE) MANE Select	NP_001034859.2:n.-405T>C
NM_001136238.2:c.-301T>C (TMPPE)	NP_001129710.1:n.-301T>C
NM_001135602.3:c.71T>C (GLB1)	NP_001129074.2:p.Leu24Ser
NM_001317040.2:c.71T>C (GLB1)	NP_001303969.2:p.Leu24Ser
NM_001393580.1:c.71T>C (GLB1)	NP_001380509.1:p.Leu24Ser