Canonical Allele Identifier: CA399838812

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42985444C>A (hg19) ; chr17:g.44908076C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908076C>A , CM000679.2:g.44908076C>A	GRCh38
NC_000017.10:g.42985444C>A , CM000679.1:g.42985444C>A	GRCh37
NC_000017.9:g.40340970C>A	NCBI36
NG_008401.1:g.12471G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1365G>T	ENSP00000253408.5:p.Met455Ile
ENST00000253408.10:c.1365G>T	ENSP00000253408.5:p.Met455Ile
ENST00000441312.2:n.98G>T
ENST00000585543.6:n.398G>T
ENST00000586125.2:c.180G>T	ENSP00000467397.2:p.Met60Ile
ENST00000588735.3:c.1245G>T MANE Select	ENSP00000466598.2:p.Met415Ile
ENST00000589701.2:n.2152G>T
ENST00000591880.2:c.344G>T
ENST00000592065.2:n.613G>T
ENST00000638304.1:c.164G>T
ENST00000638400.1:c.80G>T
ENST00000638488.1:n.709G>T
ENST00000638618.1:c.900G>T	ENSP00000492832.1:p.Met300Ile
ENST00000638921.1:n.172G>T
ENST00000639042.1:c.217G>T
ENST00000639243.1:c.1G>T
ENST00000639277.1:c.1245G>T	ENSP00000492432.1:p.Met415Ile
ENST00000639369.1:c.95G>T
ENST00000640545.1:c.51G>T	ENSP00000491735.1:p.Met17Ile
ENST00000640859.1:c.59G>T
ENST00000253408.9:c.1245G>T	ENSP00000253408.4:p.Met415Ile
ENST00000585543.5:n.398G>T
ENST00000588735.1:c.123G>T	ENSP00000466598.1:p.Met41Ile
ENST00000589701.1:n.147G>T
ENST00000591880.1:c.111G>T	ENSP00000467530.1:p.Met37Ile
ENST00000592065.1:n.39G>T
ENST00000592706.5:n.117G>T
NM_002055.4:c.1245G>T	NP_002046.1:p.Met415Ile
NM_001363846.1:c.1365G>T	NP_001350775.1:p.Met455Ile
XM_024450690.1:c.1569G>T	XP_024306458.1:p.Met523Ile
XM_024450692.1:c.1449G>T	XP_024306460.1:p.Met483Ile
NM_002055.5:c.1245G>T MANE Select	NP_002046.1:p.Met415Ile
NM_001363846.2:c.1365G>T	NP_001350775.1:p.Met455Ile