Canonical Allele Identifier: CA2261612667

Gene: GFAP

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913378A= , CM000679.2:g.44913378A=	GRCh38
NC_000017.10:g.42990746A= , CM000679.1:g.42990746A=	GRCh37
NC_000017.9:g.40346272A=	NCBI36
NG_008401.1:g.7169T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.671T=	ENSP00000253408.5:p.Leu224=
ENST00000435360.8:c.671T=	ENSP00000403962.1:p.Leu224=
ENST00000253408.10:c.671T=	ENSP00000253408.5:p.Leu224=
ENST00000435360.7:c.671T=	ENSP00000403962.1:p.Leu224=
ENST00000586127.6:n.1200T=
ENST00000586793.6:c.671T=	ENSP00000468500.2:p.Leu224=
ENST00000587997.6:n.147T=
ENST00000588735.3:c.671T= MANE Select	ENSP00000466598.2:p.Leu224=
ENST00000591327.2:n.1825T=
ENST00000592320.6:c.618+350T=	ENSP00000465320.1:n.618+350T=
ENST00000638281.1:c.671T=	ENSP00000491088.1:p.Leu224=
ENST00000638618.1:c.326T=	ENSP00000492832.1:p.Leu109=
ENST00000639277.1:c.671T=	ENSP00000492432.1:p.Leu224=
ENST00000640552.1:n.685T=
ENST00000253408.9:c.671T=	ENSP00000253408.4:p.Leu224=
ENST00000376990.8:c.*70T=	ENSP00000366189.4:n.*70T=
ENST00000435360.6:c.671T=	ENSP00000403962.1:p.Leu224=
ENST00000585728.5:c.*315T=	ENSP00000465208.1:n.*315T=
ENST00000586127.5:c.10T=	ENSP00000464795.1:p.Leu4=
ENST00000586793.5:c.671T=	ENSP00000468500.1:p.Leu224=
ENST00000587997.5:c.147T=
ENST00000588316.1:c.575T=	ENSP00000465629.1:p.Leu192=
ENST00000588735.1:c.82+2027T=	ENSP00000466598.1:n.82+2027T=
ENST00000588957.5:c.-62T=	ENSP00000465565.1:n.-62T=
ENST00000590922.1:n.321T=
ENST00000592320.5:c.618+350T=	ENSP00000465320.1:n.618+350T=
NM_001131019.2:c.671T=	NP_001124491.1:p.Leu224=
NM_001242376.1:c.671T=	NP_001229305.1:p.Leu224=
NM_002055.4:c.671T=	NP_002046.1:p.Leu224=
NM_001363846.1:c.671T=	NP_001350775.1:p.Leu224=
XM_024450690.1:c.875T=	XP_024306458.1:p.Leu292=
XM_024450691.1:c.875T=	XP_024306459.1:p.Leu292=
XM_024450692.1:c.875T=	XP_024306460.1:p.Leu292=
XM_024450693.1:c.875T=	XP_024306461.1:p.Leu292=
NM_002055.5:c.671T= MANE Select	NP_002046.1:p.Leu224=
NM_001131019.3:c.671T=	NP_001124491.1:p.Leu224=
NM_001242376.2:c.671T=	NP_001229305.1:p.Leu224=
NM_001242376.3:c.671T=	NP_001229305.1:p.Leu224=
NM_001363846.2:c.671T=	NP_001350775.1:p.Leu224=