Canonical Allele Identifier: CA475797305

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 2987799
• ClinVar RCV Id: RCV003841918
• MyVariant Identifiers: chr11:g.76918381C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77207336C>T , CM000673.2:g.77207336C>T	GRCh38
NC_000011.9:g.76918381C>T , CM000673.1:g.76918381C>T	GRCh37
NC_000011.8:g.76596029C>T	NCBI36
NG_009086.1:g.84072C>T
NG_009086.2:g.84091C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.5790C>T MANE Select	ENSP00000386331.3:p.Asn1930=
ENST00000670577.1:c.3617C>T
ENST00000409619.6:c.5643C>T	ENSP00000386635.2:p.Asn1881=
ENST00000409709.7:c.5790C>T	ENSP00000386331.3:p.Asn1930=
ENST00000458169.2:c.3216C>T	ENSP00000417017.2:p.Asn1072=
ENST00000458637.6:c.5676C>T	ENSP00000392185.2:p.Asn1892=
ENST00000481328.7:n.3326C>T
ENST00000605744.1:n.704C>T
NM_000260.3:c.5790C>T	NP_000251.3:p.Asn1930=
NM_001127180.1:c.5676C>T	NP_001120652.1:p.Asn1892=
XM_005274012.2:c.5673C>T	XP_005274069.1:p.Asn1891=
XM_006718558.2:c.5781C>T	XP_006718621.1:p.Asn1927=
XM_006718559.2:c.5676C>T	XP_006718622.1:p.Asn1892=
XM_006718560.2:c.5673C>T	XP_006718623.1:p.Asn1891=
XM_006718561.2:c.5676C>T	XP_006718624.1:p.Asn1892=
XM_011545044.1:c.5790C>T	XP_011543346.1:p.Asn1930=
XM_011545045.1:c.5784C>T	XP_011543347.1:p.Asn1928=
XM_011545046.1:c.5757C>T	XP_011543348.1:p.Asn1919=
XM_011545047.1:c.5694C>T	XP_011543349.1:p.Asn1898=
XM_011545048.1:c.5565C>T	XP_011543350.1:p.Asn1855=
XM_011545049.1:c.5553C>T	XP_011543351.1:p.Asn1851=
XM_011545050.1:c.5526C>T	XP_011543352.1:p.Asn1842=
XM_011545051.1:c.5790C>T	XP_011543353.1:p.Asn1930=
XR_949938.1:n.6110C>T
XR_949941.1:n.6110C>T
XM_011545044.2:c.5790C>T	XP_011543346.1:p.Asn1930=
XM_011545046.2:c.5880C>T	XP_011543348.2:p.Asn1960=
XM_011545050.2:c.5526C>T	XP_011543352.1:p.Asn1842=
XM_017017778.1:c.5874C>T	XP_016873267.1:p.Asn1958=
XM_017017779.1:c.5871C>T	XP_016873268.1:p.Asn1957=
XM_017017780.1:c.5880C>T	XP_016873269.1:p.Asn1960=
XM_017017781.1:c.5784C>T	XP_016873270.1:p.Asn1928=
XM_017017782.1:c.5766C>T	XP_016873271.1:p.Asn1922=
XM_017017783.1:c.5763C>T	XP_016873272.1:p.Asn1921=
XM_017017784.1:c.5763C>T	XP_016873273.1:p.Asn1921=
XM_017017785.1:c.5643C>T	XP_016873274.1:p.Asn1881=
XM_017017786.1:c.5880C>T	XP_016873275.1:p.Asn1960=
XM_017017788.1:c.5766C>T	XP_016873277.1:p.Asn1922=
XR_001747885.1:n.5895C>T
XR_001747886.1:n.5810C>T
XR_001747887.1:n.5881C>T
NM_000260.4:c.5790C>T MANE Select	NP_000251.3:p.Asn1930=
NM_001127180.2:c.5676C>T	NP_001120652.1:p.Asn1892=
NM_001369365.1:c.5643C>T	NP_001356294.1:p.Asn1881=