Canonical Allele Identifier: CA224853945
Community Standard Title: NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter)
Gene: MYO7A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77205562C>T , CM000673.2:g.77205562C>T GRCh38
NC_000011.9:g.76916607C>T , CM000673.1:g.76916607C>T GRCh37
NC_000011.8:g.76594255C>T NCBI36
NG_009086.1:g.82298C>T
NG_009086.2:g.82317C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000260.4:c.5581C>T MANE Select NP_000251.3:p.Arg1861Ter
ENST00000409709.9:c.5581C>T MANE Select ENSP00000386331.3:p.Arg1861Ter
NM_000260.3:c.5581C>T NP_000251.3:p.Arg1861Ter
NM_001127180.1:c.5467C>T NP_001120652.1:p.Arg1823Ter
NM_001127180.2:c.5467C>T NP_001120652.1:p.Arg1823Ter
NM_001369365.1:c.5434C>T NP_001356294.1:p.Arg1812Ter
ENST00000409619.6:c.5434C>T ENSP00000386635.2:p.Arg1812Ter
ENST00000409709.7:c.5581C>T ENSP00000386331.3:p.Arg1861Ter
ENST00000458169.2:c.3007C>T ENSP00000417017.2:p.Arg1003Ter
ENST00000458637.6:c.5467C>T ENSP00000392185.2:p.Arg1823Ter
ENST00000481328.7:n.3117C>T
ENST00000605744.1:n.202C>T
ENST00000670577.1:c.3408C>T
XM_005274012.2:c.5464C>T XP_005274069.1:p.Arg1822Ter
XM_006718558.2:c.5572C>T XP_006718621.1:p.Arg1858Ter
XM_006718559.2:c.5467C>T XP_006718622.1:p.Arg1823Ter
XM_006718560.2:c.5464C>T XP_006718623.1:p.Arg1822Ter
XM_006718561.2:c.5467C>T XP_006718624.1:p.Arg1823Ter
XM_011545044.1:c.5581C>T XP_011543346.1:p.Arg1861Ter
XM_011545044.2:c.5581C>T XP_011543346.1:p.Arg1861Ter
XM_011545045.1:c.5575C>T XP_011543347.1:p.Arg1859Ter
XM_011545046.1:c.5548C>T XP_011543348.1:p.Arg1850Ter
XM_011545046.2:c.5671C>T XP_011543348.2:p.Arg1891Ter
XM_011545047.1:c.5485C>T XP_011543349.1:p.Arg1829Ter
XM_011545048.1:c.5356C>T XP_011543350.1:p.Arg1786Ter
XM_011545049.1:c.5344C>T XP_011543351.1:p.Arg1782Ter
XM_011545050.1:c.5317C>T XP_011543352.1:p.Arg1773Ter
XM_011545050.2:c.5317C>T XP_011543352.1:p.Arg1773Ter
XM_011545051.1:c.5581C>T XP_011543353.1:p.Arg1861Ter
XM_011545052.1:c.5496C>T XP_011543354.1:p.Pro1832=
XM_017017778.1:c.5665C>T XP_016873267.1:p.Arg1889Ter
XM_017017779.1:c.5662C>T XP_016873268.1:p.Arg1888Ter
XM_017017780.1:c.5671C>T XP_016873269.1:p.Arg1891Ter
XM_017017781.1:c.5575C>T XP_016873270.1:p.Arg1859Ter
XM_017017782.1:c.5557C>T XP_016873271.1:p.Arg1853Ter
XM_017017783.1:c.5554C>T XP_016873272.1:p.Arg1852Ter
XM_017017784.1:c.5554C>T XP_016873273.1:p.Arg1852Ter
XM_017017785.1:c.5434C>T XP_016873274.1:p.Arg1812Ter
XM_017017786.1:c.5671C>T XP_016873275.1:p.Arg1891Ter
XM_017017788.1:c.5557C>T XP_016873277.1:p.Arg1853Ter
XR_001747885.1:n.5686C>T
XR_001747886.1:n.5601C>T
XR_001747887.1:n.5672C>T
XR_001747888.1:n.5587C>T
XR_949938.1:n.5901C>T
XR_949941.1:n.5901C>T
XR_949942.1:n.5804C>T