Canonical Allele Identifier: CA217234

Gene: GFAP

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911371A>G , CM000679.2:g.44911371A>G	GRCh38
NC_000017.10:g.42988739A>G , CM000679.1:g.42988739A>G	GRCh37
NC_000017.9:g.40344265A>G	NCBI36
NG_008401.1:g.9176T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002055.5:c.992T>C MANE Select	NP_002046.1:p.Leu331Pro
ENST00000588735.3:c.992T>C MANE Select	ENSP00000466598.2:p.Leu331Pro
NM_001131019.2:c.992T>C	NP_001124491.1:p.Leu331Pro
NM_001131019.3:c.992T>C	NP_001124491.1:p.Leu331Pro
NM_001242376.1:c.992T>C	NP_001229305.1:p.Leu331Pro
NM_001242376.2:c.992T>C	NP_001229305.1:p.Leu331Pro
NM_001242376.3:c.992T>C	NP_001229305.1:p.Leu331Pro
NM_001363846.1:c.992T>C	NP_001350775.1:p.Leu331Pro
NM_001363846.2:c.992T>C	NP_001350775.1:p.Leu331Pro
NM_002055.4:c.992T>C	NP_002046.1:p.Leu331Pro
ENST00000253408.10:c.992T>C	ENSP00000253408.5:p.Leu331Pro
ENST00000253408.11:c.992T>C	ENSP00000253408.5:p.Leu331Pro
ENST00000253408.9:c.992T>C	ENSP00000253408.4:p.Leu331Pro
ENST00000376990.8:c.*391T>C	ENSP00000366189.4:n.*391T>C
ENST00000435360.6:c.992T>C	ENSP00000403962.1:p.Leu331Pro
ENST00000435360.7:c.992T>C	ENSP00000403962.1:p.Leu331Pro
ENST00000435360.8:c.992T>C	ENSP00000403962.1:p.Leu331Pro
ENST00000585543.5:n.145T>C
ENST00000585543.6:n.145T>C
ENST00000586127.6:n.1521T>C
ENST00000586793.5:c.992T>C	ENSP00000468500.1:p.Leu331Pro
ENST00000586793.6:c.907-50T>C	ENSP00000468500.2:n.907-50T>C
ENST00000587997.5:c.468T>C
ENST00000587997.6:n.468T>C
ENST00000588640.5:n.372T>C
ENST00000588735.1:c.83-3255T>C	ENSP00000466598.1:n.83-3255T>C
ENST00000591327.2:n.2146T>C
ENST00000592320.5:c.619-50T>C	ENSP00000465320.1:n.619-50T>C
ENST00000592320.6:c.619-50T>C	ENSP00000465320.1:n.619-50T>C
ENST00000638281.1:c.992T>C	ENSP00000491088.1:p.Leu331Pro
ENST00000638618.1:c.647T>C	ENSP00000492832.1:p.Leu216Pro
ENST00000639277.1:c.992T>C	ENSP00000492432.1:p.Leu331Pro
ENST00000640552.1:n.1006T>C
XM_024450690.1:c.1196T>C	XP_024306458.1:p.Leu399Pro
XM_024450691.1:c.1196T>C	XP_024306459.1:p.Leu399Pro
XM_024450692.1:c.1196T>C	XP_024306460.1:p.Leu399Pro
XM_024450693.1:c.1196T>C	XP_024306461.1:p.Leu399Pro