Canonical Allele Identifier: CA249234

Gene: MEGF8

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.42376011G>A , CM000681.2:g.42376011G>A	GRCh38
NC_000019.9:g.42880163G>A , CM000681.1:g.42880163G>A	GRCh37
NC_000019.8:g.47572003G>A	NCBI36
NG_033030.1:g.55403G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001271938.2:c.7774G>A MANE Select	NP_001258867.1:p.Val2592Met
ENST00000251268.11:c.7774G>A MANE Select	ENSP00000251268.5:p.Val2592Met
NM_001271938.1:c.7774G>A	NP_001258867.1:p.Val2592Met
NM_001410.2:c.7573G>A	NP_001401.2:p.Val2525Met
NM_001410.3:c.7573G>A	NP_001401.2:p.Val2525Met
ENST00000251268.10:c.7774G>A	ENSP00000251268.5:p.Val2592Met
ENST00000334370.8:c.7573G>A	ENSP00000334219.4:p.Val2525Met
ENST00000378073.5:c.556G>A	ENSP00000367313.4:p.Val186Met
ENST00000593647.1:c.900G>A	ENSP00000470620.1:n.900G>A
ENST00000598762.1:c.162-2689G>A