Canonical Allele Identifier: CA352003987

Gene: GLB1

Linked Data

• MyVariant Identifiers: chr3:g.33099612C>A (hg19) ; chr3:g.33058120C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33058120C>A , CM000665.2:g.33058120C>A	GRCh38
NC_000003.11:g.33099612C>A , CM000665.1:g.33099612C>A	GRCh37
NC_000003.10:g.33074616C>A	NCBI36
NG_009005.1:g.44083G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.702G>T MANE Select	ENSP00000306920.4:p.Gln234His
ENST00000307363.9:c.702G>T	ENSP00000306920.4:p.Gln234His
ENST00000307377.12:c.341-4571G>T	ENSP00000305920.8:n.341-4571G>T
ENST00000399402.7:c.612G>T	ENSP00000382333.2:p.Gln204His
ENST00000415454.1:c.225G>T	ENSP00000411813.1:p.Gln75His
ENST00000438227.1:c.*194G>T	ENSP00000401250.1:n.*194G>T
ENST00000440656.1:c.309G>T	ENSP00000411769.1:p.Gln103His
ENST00000446732.5:c.*145G>T	ENSP00000407365.1:n.*145G>T
ENST00000482097.5:n.109-4571G>T
ENST00000485698.5:n.137-4571G>T
ENST00000498537.5:n.133-4571G>T
NM_000404.2:c.702G>T	NP_000395.2:p.Gln234His
NM_000404.3:c.702G>T	NP_000395.2:p.Gln234His
NM_001079811.1:c.612G>T	NP_001073279.1:p.Gln204His
NM_001079811.2:c.612G>T	NP_001073279.1:p.Gln204His
NM_001135602.1:c.341-4571G>T	NP_001129074.1:n.341-4571G>T
NM_001135602.2:c.341-4571G>T	NP_001129074.1:n.341-4571G>T
NM_001317040.1:c.846G>T	NP_001303969.1:p.Gln282His
NM_000404.4:c.702G>T MANE Select	NP_000395.3:p.Gln234His
NM_001079811.3:c.612G>T	NP_001073279.2:p.Gln204His
NM_001135602.3:c.341-4571G>T	NP_001129074.2:n.341-4571G>T
NM_001317040.2:c.846G>T	NP_001303969.2:p.Gln282His
NM_001393580.1:c.702G>T	NP_001380509.1:p.Gln234His