Canonical Allele Identifier: CA381954076

Gene: MYO7A

Linked Data

• dbSNP Id: rs1957517419
• MyVariant Identifiers: chr11:g.76918407C>T (hg19) ; chr11:g.77207362C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77207362C>T , CM000673.2:g.77207362C>T	GRCh38
NC_000011.9:g.76918407C>T , CM000673.1:g.76918407C>T	GRCh37
NC_000011.8:g.76596055C>T	NCBI36
NG_009086.1:g.84098C>T
NG_009086.2:g.84117C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.5816C>T MANE Select	ENSP00000386331.3:p.Ser1939Phe
ENST00000670577.1:c.3643C>T
ENST00000409619.6:c.5669C>T	ENSP00000386635.2:p.Ser1890Phe
ENST00000409709.7:c.5816C>T	ENSP00000386331.3:p.Ser1939Phe
ENST00000458169.2:c.3242C>T	ENSP00000417017.2:p.Ser1081Phe
ENST00000458637.6:c.5702C>T	ENSP00000392185.2:p.Ser1901Phe
ENST00000481328.7:n.3352C>T
ENST00000605744.1:n.730C>T
NM_000260.3:c.5816C>T	NP_000251.3:p.Ser1939Phe
NM_001127180.1:c.5702C>T	NP_001120652.1:p.Ser1901Phe
XM_005274012.2:c.5699C>T	XP_005274069.1:p.Ser1900Phe
XM_006718558.2:c.5807C>T	XP_006718621.1:p.Ser1936Phe
XM_006718559.2:c.5702C>T	XP_006718622.1:p.Ser1901Phe
XM_006718560.2:c.5699C>T	XP_006718623.1:p.Ser1900Phe
XM_006718561.2:c.5702C>T	XP_006718624.1:p.Ser1901Phe
XM_011545044.1:c.5816C>T	XP_011543346.1:p.Ser1939Phe
XM_011545045.1:c.5810C>T	XP_011543347.1:p.Ser1937Phe
XM_011545046.1:c.5783C>T	XP_011543348.1:p.Ser1928Phe
XM_011545047.1:c.5720C>T	XP_011543349.1:p.Ser1907Phe
XM_011545048.1:c.5591C>T	XP_011543350.1:p.Ser1864Phe
XM_011545049.1:c.5579C>T	XP_011543351.1:p.Ser1860Phe
XM_011545050.1:c.5552C>T	XP_011543352.1:p.Ser1851Phe
XM_011545051.1:c.5816C>T	XP_011543353.1:p.Ser1939Phe
XR_949938.1:n.6136C>T
XR_949941.1:n.6136C>T
XM_011545044.2:c.5816C>T	XP_011543346.1:p.Ser1939Phe
XM_011545046.2:c.5906C>T	XP_011543348.2:p.Ser1969Phe
XM_011545050.2:c.5552C>T	XP_011543352.1:p.Ser1851Phe
XM_017017778.1:c.5900C>T	XP_016873267.1:p.Ser1967Phe
XM_017017779.1:c.5897C>T	XP_016873268.1:p.Ser1966Phe
XM_017017780.1:c.5906C>T	XP_016873269.1:p.Ser1969Phe
XM_017017781.1:c.5810C>T	XP_016873270.1:p.Ser1937Phe
XM_017017782.1:c.5792C>T	XP_016873271.1:p.Ser1931Phe
XM_017017783.1:c.5789C>T	XP_016873272.1:p.Ser1930Phe
XM_017017784.1:c.5789C>T	XP_016873273.1:p.Ser1930Phe
XM_017017785.1:c.5669C>T	XP_016873274.1:p.Ser1890Phe
XM_017017786.1:c.5906C>T	XP_016873275.1:p.Ser1969Phe
XM_017017788.1:c.5792C>T	XP_016873277.1:p.Ser1931Phe
XR_001747885.1:n.5921C>T
XR_001747886.1:n.5836C>T
XR_001747887.1:n.5907C>T
NM_000260.4:c.5816C>T MANE Select	NP_000251.3:p.Ser1939Phe
NM_001127180.2:c.5702C>T	NP_001120652.1:p.Ser1901Phe
NM_001369365.1:c.5669C>T	NP_001356294.1:p.Ser1890Phe