Canonical Allele Identifier: CA475791686

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77208743-G-T
• MyVariant Identifiers: chr11:g.76919788G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77208743G>T , CM000673.2:g.77208743G>T	GRCh38
NC_000011.9:g.76919788G>T , CM000673.1:g.76919788G>T	GRCh37
NC_000011.8:g.76597436G>T	NCBI36
NG_009086.1:g.85479G>T
NG_009086.2:g.85498G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.5991G>T MANE Select	ENSP00000386331.3:p.Leu1997=
ENST00000670577.1:c.3792G>T
ENST00000409619.6:c.5844G>T	ENSP00000386635.2:p.Leu1948=
ENST00000409709.7:c.5991G>T	ENSP00000386331.3:p.Leu1997=
ENST00000458169.2:c.3417G>T	ENSP00000417017.2:p.Leu1139=
ENST00000458637.6:c.5877G>T	ENSP00000392185.2:p.Leu1959=
ENST00000481328.7:n.3527G>T
ENST00000605744.1:n.905G>T
NM_000260.3:c.5991G>T	NP_000251.3:p.Leu1997=
NM_001127180.1:c.5877G>T	NP_001120652.1:p.Leu1959=
XM_005274012.2:c.5874G>T	XP_005274069.1:p.Leu1958=
XM_006718558.2:c.5982G>T	XP_006718621.1:p.Leu1994=
XM_006718559.2:c.5877G>T	XP_006718622.1:p.Leu1959=
XM_006718560.2:c.5874G>T	XP_006718623.1:p.Leu1958=
XM_006718561.2:c.5877G>T	XP_006718624.1:p.Leu1959=
XM_011545044.1:c.5991G>T	XP_011543346.1:p.Leu1997=
XM_011545045.1:c.5985G>T	XP_011543347.1:p.Leu1995=
XM_011545046.1:c.5958G>T	XP_011543348.1:p.Leu1986=
XM_011545047.1:c.5895G>T	XP_011543349.1:p.Leu1965=
XM_011545048.1:c.5766G>T	XP_011543350.1:p.Leu1922=
XM_011545049.1:c.5754G>T	XP_011543351.1:p.Leu1918=
XM_011545050.1:c.5727G>T	XP_011543352.1:p.Leu1909=
XM_011545051.1:c.5991G>T	XP_011543353.1:p.Leu1997=
XR_949938.1:n.6311G>T
XR_949941.1:n.6285G>T
XM_011545044.2:c.5991G>T	XP_011543346.1:p.Leu1997=
XM_011545046.2:c.6081G>T	XP_011543348.2:p.Leu2027=
XM_011545050.2:c.5727G>T	XP_011543352.1:p.Leu1909=
XM_017017778.1:c.6075G>T	XP_016873267.1:p.Leu2025=
XM_017017779.1:c.6072G>T	XP_016873268.1:p.Leu2024=
XM_017017780.1:c.6081G>T	XP_016873269.1:p.Leu2027=
XM_017017781.1:c.5985G>T	XP_016873270.1:p.Leu1995=
XM_017017782.1:c.5967G>T	XP_016873271.1:p.Leu1989=
XM_017017783.1:c.5964G>T	XP_016873272.1:p.Leu1988=
XM_017017784.1:c.5964G>T	XP_016873273.1:p.Leu1988=
XM_017017785.1:c.5844G>T	XP_016873274.1:p.Leu1948=
XM_017017786.1:c.6081G>T	XP_016873275.1:p.Leu2027=
XM_017017788.1:c.5967G>T	XP_016873277.1:p.Leu1989=
XR_001747885.1:n.6070G>T
XR_001747886.1:n.6011G>T
XR_001747887.1:n.6056G>T
NM_000260.4:c.5991G>T MANE Select	NP_000251.3:p.Leu1997=
NM_001127180.2:c.5877G>T	NP_001120652.1:p.Leu1959=
NM_001369365.1:c.5844G>T	NP_001356294.1:p.Leu1948=