Canonical Allele Identifier: CA399845594

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42990668A>T (hg19) ; chr17:g.44913300A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913300A>T , CM000679.2:g.44913300A>T	GRCh38
NC_000017.10:g.42990668A>T , CM000679.1:g.42990668A>T	GRCh37
NC_000017.9:g.40346194A>T	NCBI36
NG_008401.1:g.7247T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.749T>A	ENSP00000253408.5:p.Met250Lys
ENST00000435360.8:c.749T>A	ENSP00000403962.1:p.Met250Lys
ENST00000253408.10:c.749T>A	ENSP00000253408.5:p.Met250Lys
ENST00000435360.7:c.749T>A	ENSP00000403962.1:p.Met250Lys
ENST00000586127.6:n.1278T>A
ENST00000586793.6:c.749T>A	ENSP00000468500.2:p.Met250Lys
ENST00000587997.6:n.225T>A
ENST00000588735.3:c.749T>A MANE Select	ENSP00000466598.2:p.Met250Lys
ENST00000591327.2:n.1903T>A
ENST00000592320.6:c.618+428T>A	ENSP00000465320.1:n.618+428T>A
ENST00000638281.1:c.749T>A	ENSP00000491088.1:p.Met250Lys
ENST00000638618.1:c.404T>A	ENSP00000492832.1:p.Met135Lys
ENST00000639277.1:c.749T>A	ENSP00000492432.1:p.Met250Lys
ENST00000640552.1:n.763T>A
ENST00000253408.9:c.749T>A	ENSP00000253408.4:p.Met250Lys
ENST00000376990.8:c.*148T>A	ENSP00000366189.4:n.*148T>A
ENST00000435360.6:c.749T>A	ENSP00000403962.1:p.Met250Lys
ENST00000586793.5:c.749T>A	ENSP00000468500.1:p.Met250Lys
ENST00000587997.5:c.225T>A
ENST00000588316.1:c.653T>A	ENSP00000465629.1:p.Met218Lys
ENST00000588735.1:c.82+2105T>A	ENSP00000466598.1:n.82+2105T>A
ENST00000588957.5:c.17T>A	ENSP00000465565.1:p.Met6Lys
ENST00000590922.1:n.399T>A
ENST00000592320.5:c.618+428T>A	ENSP00000465320.1:n.618+428T>A
NM_001131019.2:c.749T>A	NP_001124491.1:p.Met250Lys
NM_001242376.1:c.749T>A	NP_001229305.1:p.Met250Lys
NM_002055.4:c.749T>A	NP_002046.1:p.Met250Lys
NM_001363846.1:c.749T>A	NP_001350775.1:p.Met250Lys
XM_024450690.1:c.953T>A	XP_024306458.1:p.Met318Lys
XM_024450691.1:c.953T>A	XP_024306459.1:p.Met318Lys
XM_024450692.1:c.953T>A	XP_024306460.1:p.Met318Lys
XM_024450693.1:c.953T>A	XP_024306461.1:p.Met318Lys
NM_002055.5:c.749T>A MANE Select	NP_002046.1:p.Met250Lys
NM_001131019.3:c.749T>A	NP_001124491.1:p.Met250Lys
NM_001242376.2:c.749T>A	NP_001229305.1:p.Met250Lys
NM_001242376.3:c.749T>A	NP_001229305.1:p.Met250Lys
NM_001363846.2:c.749T>A	NP_001350775.1:p.Met250Lys