Canonical Allele Identifier: CA381954031

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77207340-G-T
• MyVariant Identifiers: chr11:g.76918385G>T (hg19) ; chr11:g.77207340G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77207340G>T , CM000673.2:g.77207340G>T	GRCh38
NC_000011.9:g.76918385G>T , CM000673.1:g.76918385G>T	GRCh37
NC_000011.8:g.76596033G>T	NCBI36
NG_009086.1:g.84076G>T
NG_009086.2:g.84095G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.5794G>T MANE Select	ENSP00000386331.3:p.Ala1932Ser
ENST00000670577.1:c.3621G>T
ENST00000409619.6:c.5647G>T	ENSP00000386635.2:p.Ala1883Ser
ENST00000409709.7:c.5794G>T	ENSP00000386331.3:p.Ala1932Ser
ENST00000458169.2:c.3220G>T	ENSP00000417017.2:p.Ala1074Ser
ENST00000458637.6:c.5680G>T	ENSP00000392185.2:p.Ala1894Ser
ENST00000481328.7:n.3330G>T
ENST00000605744.1:n.708G>T
NM_000260.3:c.5794G>T	NP_000251.3:p.Ala1932Ser
NM_001127180.1:c.5680G>T	NP_001120652.1:p.Ala1894Ser
XM_005274012.2:c.5677G>T	XP_005274069.1:p.Ala1893Ser
XM_006718558.2:c.5785G>T	XP_006718621.1:p.Ala1929Ser
XM_006718559.2:c.5680G>T	XP_006718622.1:p.Ala1894Ser
XM_006718560.2:c.5677G>T	XP_006718623.1:p.Ala1893Ser
XM_006718561.2:c.5680G>T	XP_006718624.1:p.Ala1894Ser
XM_011545044.1:c.5794G>T	XP_011543346.1:p.Ala1932Ser
XM_011545045.1:c.5788G>T	XP_011543347.1:p.Ala1930Ser
XM_011545046.1:c.5761G>T	XP_011543348.1:p.Ala1921Ser
XM_011545047.1:c.5698G>T	XP_011543349.1:p.Ala1900Ser
XM_011545048.1:c.5569G>T	XP_011543350.1:p.Ala1857Ser
XM_011545049.1:c.5557G>T	XP_011543351.1:p.Ala1853Ser
XM_011545050.1:c.5530G>T	XP_011543352.1:p.Ala1844Ser
XM_011545051.1:c.5794G>T	XP_011543353.1:p.Ala1932Ser
XR_949938.1:n.6114G>T
XR_949941.1:n.6114G>T
XM_011545044.2:c.5794G>T	XP_011543346.1:p.Ala1932Ser
XM_011545046.2:c.5884G>T	XP_011543348.2:p.Ala1962Ser
XM_011545050.2:c.5530G>T	XP_011543352.1:p.Ala1844Ser
XM_017017778.1:c.5878G>T	XP_016873267.1:p.Ala1960Ser
XM_017017779.1:c.5875G>T	XP_016873268.1:p.Ala1959Ser
XM_017017780.1:c.5884G>T	XP_016873269.1:p.Ala1962Ser
XM_017017781.1:c.5788G>T	XP_016873270.1:p.Ala1930Ser
XM_017017782.1:c.5770G>T	XP_016873271.1:p.Ala1924Ser
XM_017017783.1:c.5767G>T	XP_016873272.1:p.Ala1923Ser
XM_017017784.1:c.5767G>T	XP_016873273.1:p.Ala1923Ser
XM_017017785.1:c.5647G>T	XP_016873274.1:p.Ala1883Ser
XM_017017786.1:c.5884G>T	XP_016873275.1:p.Ala1962Ser
XM_017017788.1:c.5770G>T	XP_016873277.1:p.Ala1924Ser
XR_001747885.1:n.5899G>T
XR_001747886.1:n.5814G>T
XR_001747887.1:n.5885G>T
NM_000260.4:c.5794G>T MANE Select	NP_000251.3:p.Ala1932Ser
NM_001127180.2:c.5680G>T	NP_001120652.1:p.Ala1894Ser
NM_001369365.1:c.5647G>T	NP_001356294.1:p.Ala1883Ser