Canonical Allele Identifier: CA381953932
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 989484
ClinVar RCV Id: RCV001277328
dbSNP Id: rs1957511416

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77207317C>A , CM000673.2:g.77207317C>A GRCh38
NC_000011.9:g.76918362C>A , CM000673.1:g.76918362C>A GRCh37
NC_000011.8:g.76596010C>A NCBI36
NG_009086.1:g.84053C>A
NG_009086.2:g.84072C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.5771C>A MANE Select ENSP00000386331.3:p.Ala1924Asp
ENST00000670577.1:c.3598C>A
ENST00000409619.6:c.5624C>A ENSP00000386635.2:p.Ala1875Asp
ENST00000409709.7:c.5771C>A ENSP00000386331.3:p.Ala1924Asp
ENST00000458169.2:c.3197C>A ENSP00000417017.2:p.Ala1066Asp
ENST00000458637.6:c.5657C>A ENSP00000392185.2:p.Ala1886Asp
ENST00000481328.7:n.3307C>A
ENST00000605744.1:n.685C>A
NM_000260.3:c.5771C>A NP_000251.3:p.Ala1924Asp
NM_001127180.1:c.5657C>A NP_001120652.1:p.Ala1886Asp
XM_005274012.2:c.5654C>A XP_005274069.1:p.Ala1885Asp
XM_006718558.2:c.5762C>A XP_006718621.1:p.Ala1921Asp
XM_006718559.2:c.5657C>A XP_006718622.1:p.Ala1886Asp
XM_006718560.2:c.5654C>A XP_006718623.1:p.Ala1885Asp
XM_006718561.2:c.5657C>A XP_006718624.1:p.Ala1886Asp
XM_011545044.1:c.5771C>A XP_011543346.1:p.Ala1924Asp
XM_011545045.1:c.5765C>A XP_011543347.1:p.Ala1922Asp
XM_011545046.1:c.5738C>A XP_011543348.1:p.Ala1913Asp
XM_011545047.1:c.5675C>A XP_011543349.1:p.Ala1892Asp
XM_011545048.1:c.5546C>A XP_011543350.1:p.Ala1849Asp
XM_011545049.1:c.5534C>A XP_011543351.1:p.Ala1845Asp
XM_011545050.1:c.5507C>A XP_011543352.1:p.Ala1836Asp
XM_011545051.1:c.5771C>A XP_011543353.1:p.Ala1924Asp
XR_949938.1:n.6091C>A
XR_949941.1:n.6091C>A
XM_011545044.2:c.5771C>A XP_011543346.1:p.Ala1924Asp
XM_011545046.2:c.5861C>A XP_011543348.2:p.Ala1954Asp
XM_011545050.2:c.5507C>A XP_011543352.1:p.Ala1836Asp
XM_017017778.1:c.5855C>A XP_016873267.1:p.Ala1952Asp
XM_017017779.1:c.5852C>A XP_016873268.1:p.Ala1951Asp
XM_017017780.1:c.5861C>A XP_016873269.1:p.Ala1954Asp
XM_017017781.1:c.5765C>A XP_016873270.1:p.Ala1922Asp
XM_017017782.1:c.5747C>A XP_016873271.1:p.Ala1916Asp
XM_017017783.1:c.5744C>A XP_016873272.1:p.Ala1915Asp
XM_017017784.1:c.5744C>A XP_016873273.1:p.Ala1915Asp
XM_017017785.1:c.5624C>A XP_016873274.1:p.Ala1875Asp
XM_017017786.1:c.5861C>A XP_016873275.1:p.Ala1954Asp
XM_017017788.1:c.5747C>A XP_016873277.1:p.Ala1916Asp
XR_001747885.1:n.5876C>A
XR_001747886.1:n.5791C>A
XR_001747887.1:n.5862C>A
NM_000260.4:c.5771C>A MANE Select NP_000251.3:p.Ala1924Asp
NM_001127180.2:c.5657C>A NP_001120652.1:p.Ala1886Asp
NM_001369365.1:c.5624C>A NP_001356294.1:p.Ala1875Asp