Canonical Allele Identifier: CA2261611658

Gene: GFAP

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911293A= , CM000679.2:g.44911293A=	GRCh38
NC_000017.10:g.42988661A= , CM000679.1:g.42988661A=	GRCh37
NC_000017.9:g.40344187A=	NCBI36
NG_008401.1:g.9254T=

Transcript Alleles

HGVS	Amino-acid Change
NM_002055.5:c.1070T= MANE Select	NP_002046.1:p.Leu357=
ENST00000588735.3:c.1070T= MANE Select	ENSP00000466598.2:p.Leu357=
NM_001131019.2:c.1070T=	NP_001124491.1:p.Leu357=
NM_001131019.3:c.1070T=	NP_001124491.1:p.Leu357=
NM_001242376.1:c.1070T=	NP_001229305.1:p.Leu357=
NM_001242376.2:c.1070T=	NP_001229305.1:p.Leu357=
NM_001242376.3:c.1070T=	NP_001229305.1:p.Leu357=
NM_001363846.1:c.1070T=	NP_001350775.1:p.Leu357=
NM_001363846.2:c.1070T=	NP_001350775.1:p.Leu357=
NM_002055.4:c.1070T=	NP_002046.1:p.Leu357=
ENST00000253408.10:c.1070T=	ENSP00000253408.5:p.Leu357=
ENST00000253408.11:c.1070T=	ENSP00000253408.5:p.Leu357=
ENST00000253408.9:c.1070T=	ENSP00000253408.4:p.Leu357=
ENST00000435360.6:c.1070T=	ENSP00000403962.1:p.Leu357=
ENST00000435360.7:c.1070T=	ENSP00000403962.1:p.Leu357=
ENST00000435360.8:c.1070T=	ENSP00000403962.1:p.Leu357=
ENST00000585543.5:n.223T=
ENST00000585543.6:n.223T=
ENST00000586125.2:c.5T=	ENSP00000467397.2:p.Leu2=
ENST00000586127.6:n.1599T=
ENST00000586793.5:c.1070T=	ENSP00000468500.1:p.Leu357=
ENST00000586793.6:c.935T=	ENSP00000468500.2:p.Leu312=
ENST00000587997.5:c.546T=
ENST00000587997.6:n.546T=
ENST00000588640.5:n.450T=
ENST00000588735.1:c.83-3177T=	ENSP00000466598.1:n.83-3177T=
ENST00000591327.2:n.2224T=
ENST00000592320.5:c.647T=	ENSP00000465320.1:p.Leu216=
ENST00000592320.6:c.647T=	ENSP00000465320.1:p.Leu216=
ENST00000638281.1:c.1070T=	ENSP00000491088.1:p.Leu357=
ENST00000638488.1:n.11T=
ENST00000638618.1:c.725T=	ENSP00000492832.1:p.Leu242=
ENST00000639042.1:c.7T=
ENST00000639277.1:c.1070T=	ENSP00000492432.1:p.Leu357=
ENST00000639921.1:c.27T=
ENST00000640552.1:n.1084T=
XM_024450690.1:c.1274T=	XP_024306458.1:p.Leu425=
XM_024450691.1:c.1274T=	XP_024306459.1:p.Leu425=
XM_024450692.1:c.1274T=	XP_024306460.1:p.Leu425=
XM_024450693.1:c.1274T=	XP_024306461.1:p.Leu425=