Canonical Allele Identifier: CA449704369

Gene: EGFL8 PPT2-EGFL8

Linked Data

• gnomAD v4: 6-32164637-C-T
• MyVariant Identifiers: chr6:g.32132414C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164637C>T , CM000668.2:g.32164637C>T	GRCh38
NC_000006.11:g.32132414C>T , CM000668.1:g.32132414C>T	GRCh37
NC_000006.10:g.32240392C>T	NCBI36
NG_042283.1:g.16186C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.11:c.-49C>T (EGFL8) MANE Select	ENSP00000333380.6:n.-49C>T
ENST00000333845.10:c.-49C>T (EGFL8)	ENSP00000333380.6:n.-49C>T
ENST00000395512.5:c.-73C>T (EGFL8)	ENSP00000378888.1:n.-73C>T
ENST00000421600.2:c.283C>T (PPT2-EGFL8)
ENST00000422437.5:c.824C>T (PPT2-EGFL8)	ENSP00000457534.1:p.Pro275Leu
ENST00000428388.6:c.824C>T (PPT2-EGFL8)	ENSP00000455087.1:p.Pro275Leu
ENST00000453656.6:n.955C>T (PPT2-EGFL8)
ENST00000479001.2:n.809C>T (PPT2-EGFL8)
ENST00000583227.5:c.*376C>T (PPT2-EGFL8)	ENSP00000461909.1:n.*376C>T
ENST00000585246.5:c.*318-1501C>T (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1501C>T
NM_030652.3:c.-49C>T (EGFL8)	NP_085155.1:n.-49C>T
NR_037860.1:n.33C>T (EGFL8)
NR_037861.1:n.1238C>T (PPT2-EGFL8)
NM_030652.4:c.-49C>T (EGFL8) MANE Select	NP_085155.1:n.-49C>T
NR_037860.2:n.43C>T (EGFL8)