Canonical Allele Identifier: CA2180702830
Gene: MYO1E HGNC NCBI

Linked Data

dbSNP Id: rs2306786

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.59195731C>A , CM000677.2:g.59195731C>A GRCh38
NC_000015.9:g.59487930C>A , CM000677.1:g.59487930C>A GRCh37
NC_000015.8:g.57275222C>A NCBI36
NG_031999.1:g.182142G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000288235.9:c.1699-164G>T MANE Select ENSP00000288235.4:n.1699-164G>T
ENST00000288235.8:c.1699-164G>T ENSP00000288235.4:n.1699-164G>T
ENST00000558182.5:n.225-164G>T
ENST00000559269.5:c.597+22160G>T ENSP00000453232.1:n.597+22160G>T
ENST00000560642.1:n.489-164G>T
ENST00000560749.1:c.270-164G>T
NM_004998.3:c.1699-164G>T NP_004989.2:n.1699-164G>T
XM_024449932.1:c.157-164G>T XP_024305700.1:n.157-164G>T
NM_004998.4:c.1699-164G>T MANE Select NP_004989.2:n.1699-164G>T