Canonical Allele Identifier: CA475791949

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77211220-G-T
• MyVariant Identifiers: chr11:g.76922265G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211220G>T , CM000673.2:g.77211220G>T	GRCh38
NC_000011.9:g.76922265G>T , CM000673.1:g.76922265G>T	GRCh37
NC_000011.8:g.76599913G>T	NCBI36
NG_009086.1:g.87956G>T
NG_009086.2:g.87975G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.6120G>T MANE Select	ENSP00000386331.3:p.Leu2040=
ENST00000670577.1:c.3921G>T
ENST00000409619.6:c.5973G>T	ENSP00000386635.2:p.Leu1991=
ENST00000409709.7:c.6120G>T	ENSP00000386331.3:p.Leu2040=
ENST00000458169.2:c.3546G>T	ENSP00000417017.2:p.Leu1182=
ENST00000458637.6:c.6006G>T	ENSP00000392185.2:p.Leu2002=
ENST00000481328.7:n.3656G>T
ENST00000526863.2:n.25+309G>T
ENST00000605744.1:n.1587G>T
NM_000260.3:c.6120G>T	NP_000251.3:p.Leu2040=
NM_001127180.1:c.6006G>T	NP_001120652.1:p.Leu2002=
XM_005274012.2:c.6003G>T	XP_005274069.1:p.Leu2001=
XM_006718558.2:c.6111G>T	XP_006718621.1:p.Leu2037=
XM_006718559.2:c.6006G>T	XP_006718622.1:p.Leu2002=
XM_006718560.2:c.6003G>T	XP_006718623.1:p.Leu2001=
XM_006718561.2:c.6006G>T	XP_006718624.1:p.Leu2002=
XM_011545044.1:c.6120G>T	XP_011543346.1:p.Leu2040=
XM_011545045.1:c.6114G>T	XP_011543347.1:p.Leu2038=
XM_011545046.1:c.6087G>T	XP_011543348.1:p.Leu2029=
XM_011545047.1:c.6024G>T	XP_011543349.1:p.Leu2008=
XM_011545048.1:c.5895G>T	XP_011543350.1:p.Leu1965=
XM_011545049.1:c.5883G>T	XP_011543351.1:p.Leu1961=
XM_011545050.1:c.5856G>T	XP_011543352.1:p.Leu1952=
XM_011545051.1:c.6120G>T	XP_011543353.1:p.Leu2040=
XR_949938.1:n.6440G>T
XR_949941.1:n.6414G>T
XM_011545044.2:c.6120G>T	XP_011543346.1:p.Leu2040=
XM_011545046.2:c.6210G>T	XP_011543348.2:p.Leu2070=
XM_011545050.2:c.5856G>T	XP_011543352.1:p.Leu1952=
XM_017017778.1:c.6204G>T	XP_016873267.1:p.Leu2068=
XM_017017779.1:c.6201G>T	XP_016873268.1:p.Leu2067=
XM_017017780.1:c.6210G>T	XP_016873269.1:p.Leu2070=
XM_017017781.1:c.6114G>T	XP_016873270.1:p.Leu2038=
XM_017017782.1:c.6096G>T	XP_016873271.1:p.Leu2032=
XM_017017783.1:c.6093G>T	XP_016873272.1:p.Leu2031=
XM_017017784.1:c.6093G>T	XP_016873273.1:p.Leu2031=
XM_017017785.1:c.5973G>T	XP_016873274.1:p.Leu1991=
XM_017017786.1:c.6210G>T	XP_016873275.1:p.Leu2070=
XM_017017788.1:c.6096G>T	XP_016873277.1:p.Leu2032=
XR_001747885.1:n.6199G>T
XR_001747886.1:n.6140G>T
XR_001747887.1:n.6185G>T
NM_000260.4:c.6120G>T MANE Select	NP_000251.3:p.Leu2040=
NM_001127180.2:c.6006G>T	NP_001120652.1:p.Leu2002=
NM_001369365.1:c.5973G>T	NP_001356294.1:p.Leu1991=