Canonical Allele Identifier: CA6198751

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77205570C>T , CM000673.2:g.77205570C>T	GRCh38
NC_000011.9:g.76916615C>T , CM000673.1:g.76916615C>T	GRCh37
NC_000011.8:g.76594263C>T	NCBI36
NG_009086.1:g.82306C>T
NG_009086.2:g.82325C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.5589C>T MANE Select	NP_000251.3:p.His1863=
ENST00000409709.9:c.5589C>T MANE Select	ENSP00000386331.3:p.His1863=
NM_000260.3:c.5589C>T	NP_000251.3:p.His1863=
NM_001127180.1:c.5475C>T	NP_001120652.1:p.His1825=
NM_001127180.2:c.5475C>T	NP_001120652.1:p.His1825=
NM_001369365.1:c.5442C>T	NP_001356294.1:p.His1814=
ENST00000409619.6:c.5442C>T	ENSP00000386635.2:p.His1814=
ENST00000409709.7:c.5589C>T	ENSP00000386331.3:p.His1863=
ENST00000458169.2:c.3015C>T	ENSP00000417017.2:p.His1005=
ENST00000458637.6:c.5475C>T	ENSP00000392185.2:p.His1825=
ENST00000481328.7:n.3125C>T
ENST00000605744.1:n.210C>T
ENST00000670577.1:c.3416C>T
XM_005274012.2:c.5472C>T	XP_005274069.1:p.His1824=
XM_006718558.2:c.5580C>T	XP_006718621.1:p.His1860=
XM_006718559.2:c.5475C>T	XP_006718622.1:p.His1825=
XM_006718560.2:c.5472C>T	XP_006718623.1:p.His1824=
XM_006718561.2:c.5475C>T	XP_006718624.1:p.His1825=
XM_011545044.1:c.5589C>T	XP_011543346.1:p.His1863=
XM_011545044.2:c.5589C>T	XP_011543346.1:p.His1863=
XM_011545045.1:c.5583C>T	XP_011543347.1:p.His1861=
XM_011545046.1:c.5556C>T	XP_011543348.1:p.His1852=
XM_011545046.2:c.5679C>T	XP_011543348.2:p.His1893=
XM_011545047.1:c.5493C>T	XP_011543349.1:p.His1831=
XM_011545048.1:c.5364C>T	XP_011543350.1:p.His1788=
XM_011545049.1:c.5352C>T	XP_011543351.1:p.His1784=
XM_011545050.1:c.5325C>T	XP_011543352.1:p.His1775=
XM_011545050.2:c.5325C>T	XP_011543352.1:p.His1775=
XM_011545051.1:c.5589C>T	XP_011543353.1:p.His1863=
XM_011545052.1:c.5504C>T	XP_011543354.1:p.Thr1835Ile
XM_017017778.1:c.5673C>T	XP_016873267.1:p.His1891=
XM_017017779.1:c.5670C>T	XP_016873268.1:p.His1890=
XM_017017780.1:c.5679C>T	XP_016873269.1:p.His1893=
XM_017017781.1:c.5583C>T	XP_016873270.1:p.His1861=
XM_017017782.1:c.5565C>T	XP_016873271.1:p.His1855=
XM_017017783.1:c.5562C>T	XP_016873272.1:p.His1854=
XM_017017784.1:c.5562C>T	XP_016873273.1:p.His1854=
XM_017017785.1:c.5442C>T	XP_016873274.1:p.His1814=
XM_017017786.1:c.5679C>T	XP_016873275.1:p.His1893=
XM_017017788.1:c.5565C>T	XP_016873277.1:p.His1855=
XR_001747885.1:n.5694C>T
XR_001747886.1:n.5609C>T
XR_001747887.1:n.5680C>T
XR_001747888.1:n.5595C>T
XR_949938.1:n.5909C>T
XR_949941.1:n.5909C>T
XR_949942.1:n.5812C>T