Canonical Allele Identifier: CA475796369
Gene: MYO7A HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.76909550C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77198505C>T , CM000673.2:g.77198505C>T GRCh38
NC_000011.9:g.76909550C>T , CM000673.1:g.76909550C>T GRCh37
NC_000011.8:g.76587198C>T NCBI36
NG_009086.1:g.75241C>T
NG_009086.2:g.75260C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000409709.9:c.4452C>T MANE Select ENSP00000386331.3:p.Leu1484=
ENST00000670577.1:c.2293C>T
ENST00000409619.6:c.4419C>T ENSP00000386635.2:p.Leu1473=
ENST00000409709.7:c.4452C>T ENSP00000386331.3:p.Leu1484=
ENST00000458169.2:c.1995C>T ENSP00000417017.2:p.Leu665=
ENST00000458637.6:c.4452C>T ENSP00000392185.2:p.Leu1484=
ENST00000481328.7:n.2105C>T
NM_000260.3:c.4452C>T NP_000251.3:p.Leu1484=
NM_001127180.1:c.4452C>T NP_001120652.1:p.Leu1484=
XM_005274012.2:c.4452C>T XP_005274069.1:p.Leu1484=
XM_006718558.2:c.4560C>T XP_006718621.1:p.Leu1520=
XM_006718559.2:c.4452C>T XP_006718622.1:p.Leu1484=
XM_006718560.2:c.4452C>T XP_006718623.1:p.Leu1484=
XM_006718561.2:c.4452C>T XP_006718624.1:p.Leu1484=
XM_011545044.1:c.4452C>T XP_011543346.1:p.Leu1484=
XM_011545045.1:c.4560C>T XP_011543347.1:p.Leu1520=
XM_011545046.1:c.4419C>T XP_011543348.1:p.Leu1473=
XM_011545047.1:c.4470C>T XP_011543349.1:p.Leu1490=
XM_011545048.1:c.4341C>T XP_011543350.1:p.Leu1447=
XM_011545049.1:c.4329C>T XP_011543351.1:p.Leu1443=
XM_011545050.1:c.4302C>T XP_011543352.1:p.Leu1434=
XM_011545051.1:c.4452C>T XP_011543353.1:p.Leu1484=
XM_011545052.1:c.4452C>T XP_011543354.1:p.Leu1484=
XR_949938.1:n.4772C>T
XR_949941.1:n.4772C>T
XR_949942.1:n.4774C>T
XM_011545044.2:c.4452C>T XP_011543346.1:p.Leu1484=
XM_011545046.2:c.4542C>T XP_011543348.2:p.Leu1514=
XM_011545050.2:c.4302C>T XP_011543352.1:p.Leu1434=
XM_017017778.1:c.4650C>T XP_016873267.1:p.Leu1550=
XM_017017779.1:c.4650C>T XP_016873268.1:p.Leu1550=
XM_017017780.1:c.4542C>T XP_016873269.1:p.Leu1514=
XM_017017781.1:c.4560C>T XP_016873270.1:p.Leu1520=
XM_017017782.1:c.4542C>T XP_016873271.1:p.Leu1514=
XM_017017783.1:c.4542C>T XP_016873272.1:p.Leu1514=
XM_017017784.1:c.4542C>T XP_016873273.1:p.Leu1514=
XM_017017785.1:c.4419C>T XP_016873274.1:p.Leu1473=
XM_017017786.1:c.4542C>T XP_016873275.1:p.Leu1514=
XM_017017788.1:c.4542C>T XP_016873277.1:p.Leu1514=
XR_001747885.1:n.4557C>T
XR_001747886.1:n.4557C>T
XR_001747887.1:n.4557C>T
XR_001747888.1:n.4557C>T
NM_000260.4:c.4452C>T MANE Select NP_000251.3:p.Leu1484=
NM_001127180.2:c.4452C>T NP_001120652.1:p.Leu1484=
NM_001369365.1:c.4419C>T NP_001356294.1:p.Leu1473=