Canonical Allele Identifier: CA14671298
Gene: EPS15L1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs10411936

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.16437564A>G , CM000681.2:g.16437564A>G GRCh38
NC_000019.8:g.16409375A>G NCBI36
NC_000019.9:g.16548375A>G , CM000681.1:g.16548375A>G GRCh37

Transcript Alleles

HGVS Amino-acid change
ENST00000248070.10:c.309+206T>C ENSP00000248070.5:p.=
ENST00000455140.6:c.309+206T>C ENSP00000393313.1:p.=
ENST00000535753.6:c.309+206T>C ENSP00000440103.1:p.=
ENST00000592031.5:c.*46+206T>C ENSP00000465286.2:p.=
ENST00000593760.5:c.166-3081T>C ENSP00000472958.1:p.=
ENST00000594975.5:c.309+206T>C ENSP00000471662.1:p.=
ENST00000596037.5:c.309+206T>C ENSP00000472135.1:p.=
ENST00000597559.5:n.339+206T>C
ENST00000597937.5:c.309+206T>C ENSP00000472267.1:p.=
ENST00000602022.5:c.309+206T>C ENSP00000471981.1:p.=
NM_001258374.1:c.309+206T>C NP_001245303.1:p.=
NM_001258375.1:c.309+206T>C NP_001245304.1:p.=
NM_001258376.1:c.309+206T>C NP_001245305.1:p.=
NM_021235.2:c.309+206T>C NP_067058.1:p.=
NR_047665.1:n.376+206T>C
NR_047666.1:n.353+206T>C