Canonical Allele Identifier: CA449704431

Gene: EGFL8 PPT2-EGFL8

Linked Data

• MyVariant Identifiers: chr6:g.32132432C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164655C>T , CM000668.2:g.32164655C>T	GRCh38
NC_000006.11:g.32132432C>T , CM000668.1:g.32132432C>T	GRCh37
NC_000006.10:g.32240410C>T	NCBI36
NG_042283.1:g.16204C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.11:c.-31C>T (EGFL8) MANE Select	ENSP00000333380.6:n.-31C>T
ENST00000333845.10:c.-31C>T (EGFL8)	ENSP00000333380.6:n.-31C>T
ENST00000395512.5:c.-55C>T (EGFL8)	ENSP00000378888.1:n.-55C>T
ENST00000421600.2:c.301C>T (PPT2-EGFL8)
ENST00000422437.5:c.842C>T (PPT2-EGFL8)	ENSP00000457534.1:p.Pro281Leu
ENST00000428388.6:c.842C>T (PPT2-EGFL8)	ENSP00000455087.1:p.Pro281Leu
ENST00000453656.6:n.973C>T (PPT2-EGFL8)
ENST00000479001.2:n.827C>T (PPT2-EGFL8)
ENST00000583227.5:c.*394C>T (PPT2-EGFL8)	ENSP00000461909.1:n.*394C>T
ENST00000585246.5:c.*318-1483C>T (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1483C>T
NM_030652.3:c.-31C>T (EGFL8)	NP_085155.1:n.-31C>T
NR_037860.1:n.51C>T (EGFL8)
NR_037861.1:n.1256C>T (PPT2-EGFL8)
NM_030652.4:c.-31C>T (EGFL8) MANE Select	NP_085155.1:n.-31C>T
NR_037860.2:n.61C>T (EGFL8)