Canonical Allele Identifier: CA381934658

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77208784-C-T
• MyVariant Identifiers: chr11:g.76919829C>T (hg19) ; chr11:g.77208784C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77208784C>T , CM000673.2:g.77208784C>T	GRCh38
NC_000011.9:g.76919829C>T , CM000673.1:g.76919829C>T	GRCh37
NC_000011.8:g.76597477C>T	NCBI36
NG_009086.1:g.85520C>T
NG_009086.2:g.85539C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.6032C>T MANE Select	ENSP00000386331.3:p.Ser2011Phe
ENST00000670577.1:c.3833C>T
ENST00000409619.6:c.5885C>T	ENSP00000386635.2:p.Ser1962Phe
ENST00000409709.7:c.6032C>T	ENSP00000386331.3:p.Ser2011Phe
ENST00000458169.2:c.3458C>T	ENSP00000417017.2:p.Ser1153Phe
ENST00000458637.6:c.5918C>T	ENSP00000392185.2:p.Ser1973Phe
ENST00000481328.7:n.3568C>T
ENST00000605744.1:n.946C>T
NM_000260.3:c.6032C>T	NP_000251.3:p.Ser2011Phe
NM_001127180.1:c.5918C>T	NP_001120652.1:p.Ser1973Phe
XM_005274012.2:c.5915C>T	XP_005274069.1:p.Ser1972Phe
XM_006718558.2:c.6023C>T	XP_006718621.1:p.Ser2008Phe
XM_006718559.2:c.5918C>T	XP_006718622.1:p.Ser1973Phe
XM_006718560.2:c.5915C>T	XP_006718623.1:p.Ser1972Phe
XM_006718561.2:c.5918C>T	XP_006718624.1:p.Ser1973Phe
XM_011545044.1:c.6032C>T	XP_011543346.1:p.Ser2011Phe
XM_011545045.1:c.6026C>T	XP_011543347.1:p.Ser2009Phe
XM_011545046.1:c.5999C>T	XP_011543348.1:p.Ser2000Phe
XM_011545047.1:c.5936C>T	XP_011543349.1:p.Ser1979Phe
XM_011545048.1:c.5807C>T	XP_011543350.1:p.Ser1936Phe
XM_011545049.1:c.5795C>T	XP_011543351.1:p.Ser1932Phe
XM_011545050.1:c.5768C>T	XP_011543352.1:p.Ser1923Phe
XM_011545051.1:c.6032C>T	XP_011543353.1:p.Ser2011Phe
XR_949938.1:n.6352C>T
XR_949941.1:n.6326C>T
XM_011545044.2:c.6032C>T	XP_011543346.1:p.Ser2011Phe
XM_011545046.2:c.6122C>T	XP_011543348.2:p.Ser2041Phe
XM_011545050.2:c.5768C>T	XP_011543352.1:p.Ser1923Phe
XM_017017778.1:c.6116C>T	XP_016873267.1:p.Ser2039Phe
XM_017017779.1:c.6113C>T	XP_016873268.1:p.Ser2038Phe
XM_017017780.1:c.6122C>T	XP_016873269.1:p.Ser2041Phe
XM_017017781.1:c.6026C>T	XP_016873270.1:p.Ser2009Phe
XM_017017782.1:c.6008C>T	XP_016873271.1:p.Ser2003Phe
XM_017017783.1:c.6005C>T	XP_016873272.1:p.Ser2002Phe
XM_017017784.1:c.6005C>T	XP_016873273.1:p.Ser2002Phe
XM_017017785.1:c.5885C>T	XP_016873274.1:p.Ser1962Phe
XM_017017786.1:c.6122C>T	XP_016873275.1:p.Ser2041Phe
XM_017017788.1:c.6008C>T	XP_016873277.1:p.Ser2003Phe
XR_001747885.1:n.6111C>T
XR_001747886.1:n.6052C>T
XR_001747887.1:n.6097C>T
NM_000260.4:c.6032C>T MANE Select	NP_000251.3:p.Ser2011Phe
NM_001127180.2:c.5918C>T	NP_001120652.1:p.Ser1973Phe
NM_001369365.1:c.5885C>T	NP_001356294.1:p.Ser1962Phe