Canonical Allele Identifier: CA2261613621
Community Standard Title: NM_002055.5(GFAP):c.226C= (p.Leu76=)
Gene: GFAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44915261G= , CM000679.2:g.44915261G= GRCh38
NC_000017.10:g.42992629G= , CM000679.1:g.42992629G= GRCh37
NC_000017.9:g.40348155G= NCBI36
NG_008401.1:g.5286C=

Transcript Alleles

HGVS Amino-acid Change
NM_002055.5:c.226C= MANE Select NP_002046.1:p.Leu76=
ENST00000588735.3:c.226C= MANE Select ENSP00000466598.2:p.Leu76=
NM_001131019.2:c.226C= NP_001124491.1:p.Leu76=
NM_001131019.3:c.226C= NP_001124491.1:p.Leu76=
NM_001242376.1:c.226C= NP_001229305.1:p.Leu76=
NM_001242376.2:c.226C= NP_001229305.1:p.Leu76=
NM_001242376.3:c.226C= NP_001229305.1:p.Leu76=
NM_001363846.1:c.226C= NP_001350775.1:p.Leu76=
NM_001363846.2:c.226C= NP_001350775.1:p.Leu76=
NM_002055.4:c.226C= NP_002046.1:p.Leu76=
ENST00000253408.10:c.226C= ENSP00000253408.5:p.Leu76=
ENST00000253408.11:c.226C= ENSP00000253408.5:p.Leu76=
ENST00000253408.9:c.226C= ENSP00000253408.4:p.Leu76=
ENST00000376990.8:c.226C= ENSP00000366189.4:p.Leu76=
ENST00000435360.6:c.226C= ENSP00000403962.1:p.Leu76=
ENST00000435360.7:c.226C= ENSP00000403962.1:p.Leu76=
ENST00000435360.8:c.226C= ENSP00000403962.1:p.Leu76=
ENST00000585728.5:c.181+45C= ENSP00000465208.1:n.181+45C=
ENST00000586793.5:c.226C= ENSP00000468500.1:p.Leu76=
ENST00000586793.6:c.226C= ENSP00000468500.2:p.Leu76=
ENST00000588037.1:c.226C= ENSP00000466163.1:p.Leu76=
ENST00000588316.1:c.226C= ENSP00000465629.1:p.Leu76=
ENST00000588735.1:c.82+144C= ENSP00000466598.1:n.82+144C=
ENST00000588957.5:c.-272+556C= ENSP00000465565.1:n.-272+556C=
ENST00000591327.1:n.240C=
ENST00000591327.2:n.239C=
ENST00000592320.5:c.226C= ENSP00000465320.1:p.Leu76=
ENST00000592320.6:c.226C= ENSP00000465320.1:p.Leu76=
ENST00000638281.1:c.226C= ENSP00000491088.1:p.Leu76=
ENST00000639277.1:c.226C= ENSP00000492432.1:p.Leu76=
ENST00000640552.1:n.240C=
XM_024450690.1:c.226C= XP_024306458.1:p.Leu76=
XM_024450691.1:c.226C= XP_024306459.1:p.Leu76=
XM_024450692.1:c.226C= XP_024306460.1:p.Leu76=
XM_024450693.1:c.226C= XP_024306461.1:p.Leu76=