Canonical Allele Identifier: CA351992088

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33065494T>G , CM000665.2:g.33065494T>G	GRCh38
NC_000003.11:g.33106986T>G , CM000665.1:g.33106986T>G	GRCh37
NC_000003.10:g.33081990T>G	NCBI36
NG_009005.1:g.36709A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.521A>C MANE Select	ENSP00000306920.4:p.Tyr174Ser
ENST00000307363.9:c.521A>C	ENSP00000306920.4:p.Tyr174Ser
ENST00000307377.12:c.309A>C	ENSP00000305920.8:p.Leu103=
ENST00000399402.7:c.431A>C	ENSP00000382333.2:p.Tyr144Ser
ENST00000415454.1:c.76-7225A>C	ENSP00000411813.1:n.76-7225A>C
ENST00000438227.1:c.*13A>C	ENSP00000401250.1:n.*13A>C
ENST00000440656.1:c.128A>C	ENSP00000411769.1:p.Tyr43Ser
ENST00000446732.5:c.219A>C	ENSP00000407365.1:p.Leu73=
ENST00000464355.1:n.479A>C
ENST00000482097.5:n.109-11945A>C
ENST00000485698.5:n.137-11945A>C
ENST00000498537.5:n.133-11945A>C
NM_000404.2:c.521A>C	NP_000395.2:p.Tyr174Ser
NM_000404.3:c.521A>C	NP_000395.2:p.Tyr174Ser
NM_001079811.1:c.431A>C	NP_001073279.1:p.Tyr144Ser
NM_001079811.2:c.431A>C	NP_001073279.1:p.Tyr144Ser
NM_001135602.1:c.309A>C	NP_001129074.1:p.Leu103=
NM_001135602.2:c.309A>C	NP_001129074.1:p.Leu103=
NM_001317040.1:c.665A>C	NP_001303969.1:p.Tyr222Ser
NM_000404.4:c.521A>C MANE Select	NP_000395.3:p.Tyr174Ser
NM_001079811.3:c.431A>C	NP_001073279.2:p.Tyr144Ser
NM_001135602.3:c.309A>C	NP_001129074.2:p.Leu103=
NM_001317040.2:c.665A>C	NP_001303969.2:p.Tyr222Ser
NM_001393580.1:c.521A>C	NP_001380509.1:p.Tyr174Ser