Canonical Allele Identifier: CA2261611653

Gene: GFAP

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911287A= , CM000679.2:g.44911287A=	GRCh38
NC_000017.10:g.42988655A= , CM000679.1:g.42988655A=	GRCh37
NC_000017.9:g.40344181A=	NCBI36
NG_008401.1:g.9260T=

Transcript Alleles

HGVS	Amino-acid Change
NM_002055.5:c.1076T= MANE Select	NP_002046.1:p.Leu359=
ENST00000588735.3:c.1076T= MANE Select	ENSP00000466598.2:p.Leu359=
NM_001131019.2:c.1076T=	NP_001124491.1:p.Leu359=
NM_001131019.3:c.1076T=	NP_001124491.1:p.Leu359=
NM_001242376.1:c.1076T=	NP_001229305.1:p.Leu359=
NM_001242376.2:c.1076T=	NP_001229305.1:p.Leu359=
NM_001242376.3:c.1076T=	NP_001229305.1:p.Leu359=
NM_001363846.1:c.1076T=	NP_001350775.1:p.Leu359=
NM_001363846.2:c.1076T=	NP_001350775.1:p.Leu359=
NM_002055.4:c.1076T=	NP_002046.1:p.Leu359=
ENST00000253408.10:c.1076T=	ENSP00000253408.5:p.Leu359=
ENST00000253408.11:c.1076T=	ENSP00000253408.5:p.Leu359=
ENST00000253408.9:c.1076T=	ENSP00000253408.4:p.Leu359=
ENST00000435360.6:c.1076T=	ENSP00000403962.1:p.Leu359=
ENST00000435360.7:c.1076T=	ENSP00000403962.1:p.Leu359=
ENST00000435360.8:c.1076T=	ENSP00000403962.1:p.Leu359=
ENST00000585543.5:n.229T=
ENST00000585543.6:n.229T=
ENST00000586125.2:c.11T=	ENSP00000467397.2:p.Leu4=
ENST00000586127.6:n.1605T=
ENST00000586793.5:c.1076T=	ENSP00000468500.1:p.Leu359=
ENST00000586793.6:c.941T=	ENSP00000468500.2:p.Leu314=
ENST00000587997.5:c.552T=
ENST00000587997.6:n.552T=
ENST00000588640.5:n.456T=
ENST00000588735.1:c.83-3171T=	ENSP00000466598.1:n.83-3171T=
ENST00000591327.2:n.2230T=
ENST00000591880.2:c.6T=
ENST00000592320.5:c.653T=	ENSP00000465320.1:p.Leu218=
ENST00000592320.6:c.653T=	ENSP00000465320.1:p.Leu218=
ENST00000638281.1:c.1076T=	ENSP00000491088.1:p.Leu359=
ENST00000638488.1:n.17T=
ENST00000638618.1:c.731T=	ENSP00000492832.1:p.Leu244=
ENST00000639042.1:c.13T=
ENST00000639277.1:c.1076T=	ENSP00000492432.1:p.Leu359=
ENST00000639921.1:c.33T=
ENST00000640552.1:n.1090T=
XM_024450690.1:c.1280T=	XP_024306458.1:p.Leu427=
XM_024450691.1:c.1280T=	XP_024306459.1:p.Leu427=
XM_024450692.1:c.1280T=	XP_024306460.1:p.Leu427=
XM_024450693.1:c.1280T=	XP_024306461.1:p.Leu427=