Canonical Allele Identifier: CA399838819

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42985445A>T (hg19) ; chr17:g.44908077A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908077A>T , CM000679.2:g.44908077A>T	GRCh38
NC_000017.10:g.42985445A>T , CM000679.1:g.42985445A>T	GRCh37
NC_000017.9:g.40340971A>T	NCBI36
NG_008401.1:g.12470T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.1364T>A	ENSP00000253408.5:p.Met455Lys
ENST00000253408.10:c.1364T>A	ENSP00000253408.5:p.Met455Lys
ENST00000441312.2:n.97T>A
ENST00000585543.6:n.397T>A
ENST00000586125.2:c.179T>A	ENSP00000467397.2:p.Met60Lys
ENST00000588735.3:c.1244T>A MANE Select	ENSP00000466598.2:p.Met415Lys
ENST00000589701.2:n.2151T>A
ENST00000591880.2:c.343T>A
ENST00000592065.2:n.612T>A
ENST00000638304.1:c.163T>A
ENST00000638400.1:c.79T>A
ENST00000638488.1:n.708T>A
ENST00000638618.1:c.899T>A	ENSP00000492832.1:p.Met300Lys
ENST00000638921.1:n.171T>A
ENST00000639042.1:c.216T>A
ENST00000639277.1:c.1244T>A	ENSP00000492432.1:p.Met415Lys
ENST00000639369.1:c.94T>A
ENST00000640545.1:c.50T>A	ENSP00000491735.1:p.Met17Lys
ENST00000640859.1:c.58T>A
ENST00000253408.9:c.1244T>A	ENSP00000253408.4:p.Met415Lys
ENST00000585543.5:n.397T>A
ENST00000588735.1:c.122T>A	ENSP00000466598.1:p.Met41Lys
ENST00000589701.1:n.146T>A
ENST00000591880.1:c.110T>A	ENSP00000467530.1:p.Met37Lys
ENST00000592065.1:n.38T>A
ENST00000592706.5:n.116T>A
NM_002055.4:c.1244T>A	NP_002046.1:p.Met415Lys
NM_001363846.1:c.1364T>A	NP_001350775.1:p.Met455Lys
XM_024450690.1:c.1568T>A	XP_024306458.1:p.Met523Lys
XM_024450692.1:c.1448T>A	XP_024306460.1:p.Met483Lys
NM_002055.5:c.1244T>A MANE Select	NP_002046.1:p.Met415Lys
NM_001363846.2:c.1364T>A	NP_001350775.1:p.Met455Lys