Canonical Allele Identifier: CA399838824

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42985446T>A (hg19) ; chr17:g.44908078T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908078T>A , CM000679.2:g.44908078T>A	GRCh38
NC_000017.10:g.42985446T>A , CM000679.1:g.42985446T>A	GRCh37
NC_000017.9:g.40340972T>A	NCBI36
NG_008401.1:g.12469A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1363A>T	ENSP00000253408.5:p.Met455Leu
ENST00000253408.10:c.1363A>T	ENSP00000253408.5:p.Met455Leu
ENST00000441312.2:n.96A>T
ENST00000585543.6:n.396A>T
ENST00000586125.2:c.178A>T	ENSP00000467397.2:p.Met60Leu
ENST00000588735.3:c.1243A>T MANE Select	ENSP00000466598.2:p.Met415Leu
ENST00000589701.2:n.2150A>T
ENST00000591880.2:c.342A>T
ENST00000592065.2:n.611A>T
ENST00000638304.1:c.162A>T
ENST00000638400.1:c.78A>T
ENST00000638488.1:n.707A>T
ENST00000638618.1:c.898A>T	ENSP00000492832.1:p.Met300Leu
ENST00000638921.1:n.170A>T
ENST00000639042.1:c.215A>T
ENST00000639277.1:c.1243A>T	ENSP00000492432.1:p.Met415Leu
ENST00000639369.1:c.93A>T
ENST00000640545.1:c.49A>T	ENSP00000491735.1:p.Met17Leu
ENST00000640859.1:c.57A>T
ENST00000253408.9:c.1243A>T	ENSP00000253408.4:p.Met415Leu
ENST00000585543.5:n.396A>T
ENST00000588735.1:c.121A>T	ENSP00000466598.1:p.Met41Leu
ENST00000589701.1:n.145A>T
ENST00000591880.1:c.109A>T	ENSP00000467530.1:p.Met37Leu
ENST00000592065.1:n.37A>T
ENST00000592706.5:n.115A>T
NM_002055.4:c.1243A>T	NP_002046.1:p.Met415Leu
NM_001363846.1:c.1363A>T	NP_001350775.1:p.Met455Leu
XM_024450690.1:c.1567A>T	XP_024306458.1:p.Met523Leu
XM_024450692.1:c.1447A>T	XP_024306460.1:p.Met483Leu
NM_002055.5:c.1243A>T MANE Select	NP_002046.1:p.Met415Leu
NM_001363846.2:c.1363A>T	NP_001350775.1:p.Met455Leu