Canonical Allele Identifier: CA994015491

Gene: EPS15L1

Linked Data

• gnomAD v3: 19-16356963-C-A
• gnomAD v4: 19-16356963-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.16356963C>A , CM000681.2:g.16356963C>A	GRCh38
NC_000019.9:g.16467774C>A , CM000681.1:g.16467774C>A	GRCh37
NC_000019.8:g.16328774C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455140.7:c.2587-1112G>T MANE Select	ENSP00000393313.1:n.2587-1112G>T
ENST00000455140.6:c.2587-1112G>T	ENSP00000393313.1:n.2587-1112G>T
ENST00000594851.5:c.69-1112G>T
ENST00000602022.5:c.*189-1112G>T	ENSP00000471981.1:n.*189-1112G>T
NM_001258374.1:c.2587-1112G>T	NP_001245303.1:n.2587-1112G>T
NR_047665.1:n.2521-1112G>T
XM_017027086.2:c.2635-1112G>T	XP_016882575.1:n.2635-1112G>T
XM_017027087.2:c.2697G>T	XP_016882576.1:p.Glu899Asp
XM_017027088.2:c.2590G>T	XP_016882577.1:p.Ala864Ser
XM_017027089.2:c.2528-1112G>T	XP_016882578.1:n.2528-1112G>T
XM_017027090.2:c.2248-1112G>T	XP_016882579.1:n.2248-1112G>T
XM_017027091.2:c.2381-1112G>T	XP_016882580.1:n.2381-1112G>T
NM_001258374.2:c.2587-1112G>T	NP_001245303.1:n.2587-1112G>T
NM_001258374.3:c.2587-1112G>T MANE Select	NP_001245303.1:n.2587-1112G>T
NR_047665.2:n.2479-1112G>T