Canonical Allele Identifier: CA475796372
Gene: MYO7A HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.76909553C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77198508C>A , CM000673.2:g.77198508C>A GRCh38
NC_000011.9:g.76909553C>A , CM000673.1:g.76909553C>A GRCh37
NC_000011.8:g.76587201C>A NCBI36
NG_009086.1:g.75244C>A
NG_009086.2:g.75263C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000409709.9:c.4455C>A MANE Select ENSP00000386331.3:p.Pro1485=
ENST00000670577.1:c.2296C>A
ENST00000409619.6:c.4422C>A ENSP00000386635.2:p.Pro1474=
ENST00000409709.7:c.4455C>A ENSP00000386331.3:p.Pro1485=
ENST00000458169.2:c.1998C>A ENSP00000417017.2:p.Pro666=
ENST00000458637.6:c.4455C>A ENSP00000392185.2:p.Pro1485=
ENST00000481328.7:n.2108C>A
NM_000260.3:c.4455C>A NP_000251.3:p.Pro1485=
NM_001127180.1:c.4455C>A NP_001120652.1:p.Pro1485=
XM_005274012.2:c.4455C>A XP_005274069.1:p.Pro1485=
XM_006718558.2:c.4563C>A XP_006718621.1:p.Pro1521=
XM_006718559.2:c.4455C>A XP_006718622.1:p.Pro1485=
XM_006718560.2:c.4455C>A XP_006718623.1:p.Pro1485=
XM_006718561.2:c.4455C>A XP_006718624.1:p.Pro1485=
XM_011545044.1:c.4455C>A XP_011543346.1:p.Pro1485=
XM_011545045.1:c.4563C>A XP_011543347.1:p.Pro1521=
XM_011545046.1:c.4422C>A XP_011543348.1:p.Pro1474=
XM_011545047.1:c.4473C>A XP_011543349.1:p.Pro1491=
XM_011545048.1:c.4344C>A XP_011543350.1:p.Pro1448=
XM_011545049.1:c.4332C>A XP_011543351.1:p.Pro1444=
XM_011545050.1:c.4305C>A XP_011543352.1:p.Pro1435=
XM_011545051.1:c.4455C>A XP_011543353.1:p.Pro1485=
XM_011545052.1:c.4455C>A XP_011543354.1:p.Pro1485=
XR_949938.1:n.4775C>A
XR_949941.1:n.4775C>A
XR_949942.1:n.4777C>A
XM_011545044.2:c.4455C>A XP_011543346.1:p.Pro1485=
XM_011545046.2:c.4545C>A XP_011543348.2:p.Pro1515=
XM_011545050.2:c.4305C>A XP_011543352.1:p.Pro1435=
XM_017017778.1:c.4653C>A XP_016873267.1:p.Pro1551=
XM_017017779.1:c.4653C>A XP_016873268.1:p.Pro1551=
XM_017017780.1:c.4545C>A XP_016873269.1:p.Pro1515=
XM_017017781.1:c.4563C>A XP_016873270.1:p.Pro1521=
XM_017017782.1:c.4545C>A XP_016873271.1:p.Pro1515=
XM_017017783.1:c.4545C>A XP_016873272.1:p.Pro1515=
XM_017017784.1:c.4545C>A XP_016873273.1:p.Pro1515=
XM_017017785.1:c.4422C>A XP_016873274.1:p.Pro1474=
XM_017017786.1:c.4545C>A XP_016873275.1:p.Pro1515=
XM_017017788.1:c.4545C>A XP_016873277.1:p.Pro1515=
XR_001747885.1:n.4560C>A
XR_001747886.1:n.4560C>A
XR_001747887.1:n.4560C>A
XR_001747888.1:n.4560C>A
NM_000260.4:c.4455C>A MANE Select NP_000251.3:p.Pro1485=
NM_001127180.2:c.4455C>A NP_001120652.1:p.Pro1485=
NM_001369365.1:c.4422C>A NP_001356294.1:p.Pro1474=