Canonical Allele Identifier: CA381950227
Gene: MYO7A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77198507C>A , CM000673.2:g.77198507C>A GRCh38
NC_000011.9:g.76909552C>A , CM000673.1:g.76909552C>A GRCh37
NC_000011.8:g.76587200C>A NCBI36
NG_009086.1:g.75243C>A
NG_009086.2:g.75262C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000409709.9:c.4454C>A MANE Select ENSP00000386331.3:p.Pro1485His
ENST00000670577.1:c.2295C>A
ENST00000409619.6:c.4421C>A ENSP00000386635.2:p.Pro1474His
ENST00000409709.7:c.4454C>A ENSP00000386331.3:p.Pro1485His
ENST00000458169.2:c.1997C>A ENSP00000417017.2:p.Pro666His
ENST00000458637.6:c.4454C>A ENSP00000392185.2:p.Pro1485His
ENST00000481328.7:n.2107C>A
NM_000260.3:c.4454C>A NP_000251.3:p.Pro1485His
NM_001127180.1:c.4454C>A NP_001120652.1:p.Pro1485His
XM_005274012.2:c.4454C>A XP_005274069.1:p.Pro1485His
XM_006718558.2:c.4562C>A XP_006718621.1:p.Pro1521His
XM_006718559.2:c.4454C>A XP_006718622.1:p.Pro1485His
XM_006718560.2:c.4454C>A XP_006718623.1:p.Pro1485His
XM_006718561.2:c.4454C>A XP_006718624.1:p.Pro1485His
XM_011545044.1:c.4454C>A XP_011543346.1:p.Pro1485His
XM_011545045.1:c.4562C>A XP_011543347.1:p.Pro1521His
XM_011545046.1:c.4421C>A XP_011543348.1:p.Pro1474His
XM_011545047.1:c.4472C>A XP_011543349.1:p.Pro1491His
XM_011545048.1:c.4343C>A XP_011543350.1:p.Pro1448His
XM_011545049.1:c.4331C>A XP_011543351.1:p.Pro1444His
XM_011545050.1:c.4304C>A XP_011543352.1:p.Pro1435His
XM_011545051.1:c.4454C>A XP_011543353.1:p.Pro1485His
XM_011545052.1:c.4454C>A XP_011543354.1:p.Pro1485His
XR_949938.1:n.4774C>A
XR_949941.1:n.4774C>A
XR_949942.1:n.4776C>A
XM_011545044.2:c.4454C>A XP_011543346.1:p.Pro1485His
XM_011545046.2:c.4544C>A XP_011543348.2:p.Pro1515His
XM_011545050.2:c.4304C>A XP_011543352.1:p.Pro1435His
XM_017017778.1:c.4652C>A XP_016873267.1:p.Pro1551His
XM_017017779.1:c.4652C>A XP_016873268.1:p.Pro1551His
XM_017017780.1:c.4544C>A XP_016873269.1:p.Pro1515His
XM_017017781.1:c.4562C>A XP_016873270.1:p.Pro1521His
XM_017017782.1:c.4544C>A XP_016873271.1:p.Pro1515His
XM_017017783.1:c.4544C>A XP_016873272.1:p.Pro1515His
XM_017017784.1:c.4544C>A XP_016873273.1:p.Pro1515His
XM_017017785.1:c.4421C>A XP_016873274.1:p.Pro1474His
XM_017017786.1:c.4544C>A XP_016873275.1:p.Pro1515His
XM_017017788.1:c.4544C>A XP_016873277.1:p.Pro1515His
XR_001747885.1:n.4559C>A
XR_001747886.1:n.4559C>A
XR_001747887.1:n.4559C>A
XR_001747888.1:n.4559C>A
NM_000260.4:c.4454C>A MANE Select NP_000251.3:p.Pro1485His
NM_001127180.2:c.4454C>A NP_001120652.1:p.Pro1485His
NM_001369365.1:c.4421C>A NP_001356294.1:p.Pro1474His