Canonical Allele Identifier: CA2583206097

Gene: EPS15L1

Linked Data

• gnomAD v4: 19-16356952-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.16356952C>G , CM000681.2:g.16356952C>G	GRCh38
NC_000019.9:g.16467763C>G , CM000681.1:g.16467763C>G	GRCh37
NC_000019.8:g.16328763C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455140.7:c.2587-1101G>C MANE Select	ENSP00000393313.1:n.2587-1101G>C
ENST00000455140.6:c.2587-1101G>C	ENSP00000393313.1:n.2587-1101G>C
ENST00000594851.5:c.69-1101G>C
ENST00000602022.5:c.*189-1101G>C	ENSP00000471981.1:n.*189-1101G>C
NM_001258374.1:c.2587-1101G>C	NP_001245303.1:n.2587-1101G>C
NR_047665.1:n.2521-1101G>C
XM_017027086.2:c.2635-1101G>C	XP_016882575.1:n.2635-1101G>C
XM_017027087.2:c.2708G>C	XP_016882576.1:p.Gly903Ala
XM_017027088.2:c.2601G>C	XP_016882577.1:p.Arg867Ser
XM_017027089.2:c.2528-1101G>C	XP_016882578.1:n.2528-1101G>C
XM_017027090.2:c.2248-1101G>C	XP_016882579.1:n.2248-1101G>C
XM_017027091.2:c.2381-1101G>C	XP_016882580.1:n.2381-1101G>C
NM_001258374.2:c.2587-1101G>C	NP_001245303.1:n.2587-1101G>C
NM_001258374.3:c.2587-1101G>C MANE Select	NP_001245303.1:n.2587-1101G>C
NR_047665.2:n.2479-1101G>C