Canonical Allele Identifier: CA994013191

Gene: EPS15L1

Linked Data

• dbSNP Id: rs2092988968
• gnomAD v3: 19-16437398-G-A
• gnomAD v4: 19-16437398-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.16437398G>A , CM000681.2:g.16437398G>A	GRCh38
NC_000019.9:g.16548209G>A , CM000681.1:g.16548209G>A	GRCh37
NC_000019.8:g.16409209G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455140.7:c.309+372C>T MANE Select	ENSP00000393313.1:n.309+372C>T
ENST00000248070.10:c.309+372C>T	ENSP00000248070.5:n.309+372C>T
ENST00000455140.6:c.309+372C>T	ENSP00000393313.1:n.309+372C>T
ENST00000535753.6:c.309+372C>T	ENSP00000440103.1:n.309+372C>T
ENST00000592031.5:c.*46+372C>T	ENSP00000465286.2:n.*46+372C>T
ENST00000593760.5:c.166-2915C>T	ENSP00000472958.1:n.166-2915C>T
ENST00000594975.5:c.309+372C>T	ENSP00000471662.1:n.309+372C>T
ENST00000596037.5:c.310-334C>T	ENSP00000472135.1:n.310-334C>T
ENST00000597559.5:n.339+372C>T
ENST00000597937.5:c.309+372C>T	ENSP00000472267.1:n.309+372C>T
ENST00000602022.5:c.309+372C>T	ENSP00000471981.1:n.309+372C>T
NM_001258374.1:c.309+372C>T	NP_001245303.1:n.309+372C>T
NM_001258375.1:c.309+372C>T	NP_001245304.1:n.309+372C>T
NM_001258376.1:c.309+372C>T	NP_001245305.1:n.309+372C>T
NM_021235.2:c.309+372C>T	NP_067058.1:n.309+372C>T
NR_047665.1:n.376+372C>T
NR_047666.1:n.353+372C>T
XM_017027086.2:c.309+372C>T	XP_016882575.1:n.309+372C>T
XM_017027087.2:c.309+372C>T	XP_016882576.1:n.309+372C>T
XM_017027088.2:c.309+372C>T	XP_016882577.1:n.309+372C>T
XM_017027089.2:c.309+372C>T	XP_016882578.1:n.309+372C>T
XM_017027090.2:c.309+372C>T	XP_016882579.1:n.309+372C>T
XM_017027091.2:c.309+372C>T	XP_016882580.1:n.309+372C>T
XM_017027092.2:c.309+372C>T	XP_016882581.1:n.309+372C>T
NM_001258374.2:c.309+372C>T	NP_001245303.1:n.309+372C>T
NM_001258374.3:c.309+372C>T MANE Select	NP_001245303.1:n.309+372C>T
NM_001258375.2:c.309+372C>T	NP_001245304.1:n.309+372C>T
NM_001258376.2:c.309+372C>T	NP_001245305.1:n.309+372C>T
NM_021235.3:c.309+372C>T	NP_067058.1:n.309+372C>T
NR_047665.2:n.334+372C>T