Canonical Allele Identifier: CA381934246

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 932085
• ClinVar RCV Id: RCV001199231 ; RCV001863138
• dbSNP Id: rs1957644487
• gnomAD v4: 11-77208734-G-A
• MyVariant Identifiers: chr11:g.76919779G>A (hg19) ; chr11:g.77208734G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77208734G>A , CM000673.2:g.77208734G>A	GRCh38
NC_000011.9:g.76919779G>A , CM000673.1:g.76919779G>A	GRCh37
NC_000011.8:g.76597427G>A	NCBI36
NG_009086.1:g.85470G>A
NG_009086.2:g.85489G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.5982G>A MANE Select	ENSP00000386331.3:p.Met1994Ile
ENST00000670577.1:c.3783G>A
ENST00000409619.6:c.5835G>A	ENSP00000386635.2:p.Met1945Ile
ENST00000409709.7:c.5982G>A	ENSP00000386331.3:p.Met1994Ile
ENST00000458169.2:c.3408G>A	ENSP00000417017.2:p.Met1136Ile
ENST00000458637.6:c.5868G>A	ENSP00000392185.2:p.Met1956Ile
ENST00000481328.7:n.3518G>A
ENST00000605744.1:n.896G>A
NM_000260.3:c.5982G>A	NP_000251.3:p.Met1994Ile
NM_001127180.1:c.5868G>A	NP_001120652.1:p.Met1956Ile
XM_005274012.2:c.5865G>A	XP_005274069.1:p.Met1955Ile
XM_006718558.2:c.5973G>A	XP_006718621.1:p.Met1991Ile
XM_006718559.2:c.5868G>A	XP_006718622.1:p.Met1956Ile
XM_006718560.2:c.5865G>A	XP_006718623.1:p.Met1955Ile
XM_006718561.2:c.5868G>A	XP_006718624.1:p.Met1956Ile
XM_011545044.1:c.5982G>A	XP_011543346.1:p.Met1994Ile
XM_011545045.1:c.5976G>A	XP_011543347.1:p.Met1992Ile
XM_011545046.1:c.5949G>A	XP_011543348.1:p.Met1983Ile
XM_011545047.1:c.5886G>A	XP_011543349.1:p.Met1962Ile
XM_011545048.1:c.5757G>A	XP_011543350.1:p.Met1919Ile
XM_011545049.1:c.5745G>A	XP_011543351.1:p.Met1915Ile
XM_011545050.1:c.5718G>A	XP_011543352.1:p.Met1906Ile
XM_011545051.1:c.5982G>A	XP_011543353.1:p.Met1994Ile
XR_949938.1:n.6302G>A
XR_949941.1:n.6276G>A
XM_011545044.2:c.5982G>A	XP_011543346.1:p.Met1994Ile
XM_011545046.2:c.6072G>A	XP_011543348.2:p.Met2024Ile
XM_011545050.2:c.5718G>A	XP_011543352.1:p.Met1906Ile
XM_017017778.1:c.6066G>A	XP_016873267.1:p.Met2022Ile
XM_017017779.1:c.6063G>A	XP_016873268.1:p.Met2021Ile
XM_017017780.1:c.6072G>A	XP_016873269.1:p.Met2024Ile
XM_017017781.1:c.5976G>A	XP_016873270.1:p.Met1992Ile
XM_017017782.1:c.5958G>A	XP_016873271.1:p.Met1986Ile
XM_017017783.1:c.5955G>A	XP_016873272.1:p.Met1985Ile
XM_017017784.1:c.5955G>A	XP_016873273.1:p.Met1985Ile
XM_017017785.1:c.5835G>A	XP_016873274.1:p.Met1945Ile
XM_017017786.1:c.6072G>A	XP_016873275.1:p.Met2024Ile
XM_017017788.1:c.5958G>A	XP_016873277.1:p.Met1986Ile
XR_001747885.1:n.6061G>A
XR_001747886.1:n.6002G>A
XR_001747887.1:n.6047G>A
NM_000260.4:c.5982G>A MANE Select	NP_000251.3:p.Met1994Ile
NM_001127180.2:c.5868G>A	NP_001120652.1:p.Met1956Ile
NM_001369365.1:c.5835G>A	NP_001356294.1:p.Met1945Ile