Canonical Allele Identifier: CA9159156
Community Standard Title: NM_012335.4(MYO1F):c.1705G>A (p.Asp569Asn)
Gene: MYO1F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8537043C>T , CM000681.2:g.8537043C>T GRCh38
NC_000019.9:g.8601927C>T , CM000681.1:g.8601927C>T GRCh37
NC_000019.8:g.8507927C>T NCBI36
NG_052844.1:g.45405G>A

Transcript Alleles

HGVS Amino-acid Change
NM_012335.4:c.1705G>A MANE Select NP_036467.2:p.Asp569Asn
ENST00000644032.2:c.1705G>A MANE Select ENSP00000494550.1:p.Asp569Asn
NM_001348355.1:c.1693G>A NP_001335284.1:p.Asp565Asn
NM_001348355.2:c.1693G>A NP_001335284.1:p.Asp565Asn
NM_012335.3:c.1705G>A NP_036467.2:p.Asp569Asn
ENST00000338257.12:c.1705G>A ENSP00000344871.6:p.Asp569Asn
ENST00000597222.1:n.119G>A
ENST00000597222.2:n.119G>A
ENST00000598005.1:c.139G>A ENSP00000469098.1:p.Asp47Asn
ENST00000598005.2:n.139G>A
ENST00000613525.4:c.1705G>A ENSP00000481682.1:p.Asp569Asn
XM_011528024.1:c.1705G>A XP_011526326.1:p.Asp569Asn
XM_011528024.2:c.1705G>A XP_011526326.1:p.Asp569Asn
XM_011528025.1:c.1693G>A XP_011526327.1:p.Asp565Asn
XM_011528025.2:c.1693G>A XP_011526327.1:p.Asp565Asn
XM_011528026.1:c.1618G>A XP_011526328.1:p.Asp540Asn
XM_011528026.2:c.1618G>A XP_011526328.1:p.Asp540Asn
XM_011528027.1:c.1619G>A XP_011526329.1:p.Arg540Gln
XM_011528027.2:c.1619G>A XP_011526329.1:p.Arg540Gln
XM_011528028.1:c.1619G>A XP_011526330.1:p.Arg540Gln
XM_011528028.3:c.1619G>A XP_011526330.1:p.Arg540Gln
XM_024451522.1:c.487G>A XP_024307290.1:p.Asp163Asn
XR_001753692.2:n.1838G>A
XR_936179.1:n.1843G>A
XR_936180.1:n.1843G>A
XR_936180.3:n.1838G>A
XR_936181.1:n.1836G>A
XR_936181.2:n.1831G>A
XR_936182.1:n.1836G>A
XR_936182.3:n.1831G>A