Canonical Allele Identifier: CA351999476

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33046217T>G , CM000665.2:g.33046217T>G	GRCh38
NC_000003.11:g.33087709T>G , CM000665.1:g.33087709T>G	GRCh37
NC_000003.10:g.33062713T>G	NCBI36
NG_009005.1:g.55986A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.971A>C MANE Select	NP_000395.3:p.Tyr324Ser
ENST00000307363.10:c.971A>C MANE Select	ENSP00000306920.4:p.Tyr324Ser
NM_000404.2:c.971A>C	NP_000395.2:p.Tyr324Ser
NM_000404.3:c.971A>C	NP_000395.2:p.Tyr324Ser
NM_001079811.1:c.881A>C	NP_001073279.1:p.Tyr294Ser
NM_001079811.2:c.881A>C	NP_001073279.1:p.Tyr294Ser
NM_001079811.3:c.881A>C	NP_001073279.2:p.Tyr294Ser
NM_001135602.1:c.578A>C	NP_001129074.1:p.Tyr193Ser
NM_001135602.2:c.578A>C	NP_001129074.1:p.Tyr193Ser
NM_001135602.3:c.578A>C	NP_001129074.2:p.Tyr193Ser
NM_001317040.1:c.1115A>C	NP_001303969.1:p.Tyr372Ser
NM_001317040.2:c.1115A>C	NP_001303969.2:p.Tyr372Ser
NM_001393580.1:c.971A>C	NP_001380509.1:p.Tyr324Ser
ENST00000307363.9:c.971A>C	ENSP00000306920.4:p.Tyr324Ser
ENST00000307377.12:c.578A>C	ENSP00000305920.8:p.Tyr193Ser
ENST00000399402.7:c.881A>C	ENSP00000382333.2:p.Tyr294Ser
ENST00000415454.1:c.494A>C	ENSP00000411813.1:p.Tyr165Ser
ENST00000482097.5:n.346A>C
ENST00000485698.5:n.374A>C
ENST00000498537.5:n.497A>C