Canonical Allele Identifier: CA224841781
Gene: MYO7A HGNC NCBI

Linked Data

dbSNP Id: rs377592098

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77182116dup , CM000673.2:g.77182116dup GRCh38
NC_000011.8:g.76570810dup NCBI36
NG_009086.1:g.58853dup
NG_009086.2:g.58871dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.3070dup MANE Select ENSP00000386331.3:p.Gln1024ProfsTer7
ENST00000409893.6:c.1135dup ENSP00000386689.2:p.Gln379ProfsTer7
ENST00000670577.1:c.911dup
ENST00000409619.6:c.3037dup ENSP00000386635.2:p.Gln1013ProfsTer7
ENST00000409709.7:c.3070dup ENSP00000386331.3:p.Gln1024ProfsTer7
ENST00000409893.5:c.3070dup ENSP00000386689.1:p.Gln1024ProfsTer7
ENST00000458169.2:c.613dup ENSP00000417017.2:p.Gln205ProfsTer7
ENST00000458637.6:c.3070dup ENSP00000392185.2:p.Gln1024ProfsTer7
ENST00000481328.7:n.613dup
ENST00000620575.4:c.3070dup ENSP00000477640.1:p.Gln1024ProfsTer7
NM_000260.3:c.3070dup NP_000251.3:p.Gln1024ProfsTer7
NM_001127179.2:c.3070dup NP_001120651.2:p.Gln1024ProfsTer7
NM_001127180.1:c.3070dup NP_001120652.1:p.Gln1024ProfsTer7
XM_005274012.2:c.3070dup XP_005274069.1:p.Gln1024ProfsTer7
XM_006718558.2:c.3070dup XP_006718621.1:p.Gln1024ProfsTer7
XM_006718559.2:c.3070dup XP_006718622.1:p.Gln1024ProfsTer7
XM_006718560.2:c.3070dup XP_006718623.1:p.Gln1024ProfsTer7
XM_006718561.2:c.3070dup XP_006718624.1:p.Gln1024ProfsTer7
XM_011545044.1:c.3070dup XP_011543346.1:p.Gln1024ProfsTer7
XM_011545045.1:c.3070dup XP_011543347.1:p.Gln1024ProfsTer7
XM_011545046.1:c.3037dup XP_011543348.1:p.Gln1013ProfsTer7
XM_011545047.1:c.3070dup XP_011543349.1:p.Gln1024ProfsTer7
XM_011545048.1:c.2851dup XP_011543350.1:p.Gln951ProfsTer7
XM_011545049.1:c.2839dup XP_011543351.1:p.Gln947ProfsTer7
XM_011545050.1:c.2812dup XP_011543352.1:p.Gln938ProfsTer7
XM_011545051.1:c.3070dup XP_011543353.1:p.Gln1024ProfsTer7
XM_011545052.1:c.3070dup XP_011543354.1:p.Gln1024ProfsTer7
XR_949938.1:n.3390dup
XR_949941.1:n.3390dup
XR_949942.1:n.3392dup
XR_949943.1:n.3392dup
XM_011545044.2:c.3070dup XP_011543346.1:p.Gln1024ProfsTer7
XM_011545046.2:c.3160dup XP_011543348.2:p.Gln1054ProfsTer7
XM_011545050.2:c.2812dup XP_011543352.1:p.Gln938ProfsTer7
XM_017017778.1:c.3160dup XP_016873267.1:p.Gln1054ProfsTer7
XM_017017779.1:c.3160dup XP_016873268.1:p.Gln1054ProfsTer7
XM_017017780.1:c.3160dup XP_016873269.1:p.Gln1054ProfsTer7
XM_017017781.1:c.3160dup XP_016873270.1:p.Gln1054ProfsTer7
XM_017017782.1:c.3160dup XP_016873271.1:p.Gln1054ProfsTer7
XM_017017783.1:c.3160dup XP_016873272.1:p.Gln1054ProfsTer7
XM_017017784.1:c.3160dup XP_016873273.1:p.Gln1054ProfsTer7
XM_017017785.1:c.2929dup XP_016873274.1:p.Gln977ProfsTer7
XM_017017786.1:c.3160dup XP_016873275.1:p.Gln1054ProfsTer7
XM_017017787.1:c.3160dup XP_016873276.1:p.Gln1054ProfsTer7
XM_017017788.1:c.3160dup XP_016873277.1:p.Gln1054ProfsTer7
XR_001747885.1:n.3175dup
XR_001747886.1:n.3175dup
XR_001747887.1:n.3175dup
XR_001747888.1:n.3175dup
XR_001747889.1:n.3175dup
NM_000260.4:c.3070dup MANE Select NP_000251.3:p.Gln1024ProfsTer7
NM_001127180.2:c.3070dup NP_001120652.1:p.Gln1024ProfsTer7
NM_001369365.1:c.3037dup NP_001356294.1:p.Gln1013ProfsTer7