Canonical Allele Identifier: CA10640241

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 306197
• ClinVar RCV Id: RCV000302211 ; RCV000355606 ; RCV000403039 ; RCV002056248
• dbSNP Id: rs747516555
• gnomAD v4: 11-77206127-G-C
• MyVariant Identifiers: chr11:g.76917172G>C (hg19) ; chr11:g.77206127G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77206127G>C , CM000673.2:g.77206127G>C	GRCh38
NC_000011.9:g.76917172G>C , CM000673.1:g.76917172G>C	GRCh37
NC_000011.8:g.76594820G>C	NCBI36
NG_009086.1:g.82863G>C
NG_009086.2:g.82882G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.5667G>C MANE Select	ENSP00000386331.3:p.Leu1889=
ENST00000670577.1:c.3494G>C
ENST00000409619.6:c.5520G>C	ENSP00000386635.2:p.Leu1840=
ENST00000409709.7:c.5667G>C	ENSP00000386331.3:p.Leu1889=
ENST00000458169.2:c.3093G>C	ENSP00000417017.2:p.Leu1031=
ENST00000458637.6:c.5553G>C	ENSP00000392185.2:p.Leu1851=
ENST00000481328.7:n.3203G>C
ENST00000605744.1:n.288G>C
NM_000260.3:c.5667G>C	NP_000251.3:p.Leu1889=
NM_001127180.1:c.5553G>C	NP_001120652.1:p.Leu1851=
XM_005274012.2:c.5550G>C	XP_005274069.1:p.Leu1850=
XM_006718558.2:c.5658G>C	XP_006718621.1:p.Leu1886=
XM_006718559.2:c.5553G>C	XP_006718622.1:p.Leu1851=
XM_006718560.2:c.5550G>C	XP_006718623.1:p.Leu1850=
XM_006718561.2:c.5553G>C	XP_006718624.1:p.Leu1851=
XM_011545044.1:c.5667G>C	XP_011543346.1:p.Leu1889=
XM_011545045.1:c.5661G>C	XP_011543347.1:p.Leu1887=
XM_011545046.1:c.5634G>C	XP_011543348.1:p.Leu1878=
XM_011545047.1:c.5571G>C	XP_011543349.1:p.Leu1857=
XM_011545048.1:c.5442G>C	XP_011543350.1:p.Leu1814=
XM_011545049.1:c.5430G>C	XP_011543351.1:p.Leu1810=
XM_011545050.1:c.5403G>C	XP_011543352.1:p.Leu1801=
XM_011545051.1:c.5667G>C	XP_011543353.1:p.Leu1889=
XM_011545052.1:c.*32G>C	XP_011543354.1:n.*32G>C
XR_949938.1:n.5987G>C
XR_949941.1:n.5987G>C
XM_011545044.2:c.5667G>C	XP_011543346.1:p.Leu1889=
XM_011545046.2:c.5757G>C	XP_011543348.2:p.Leu1919=
XM_011545050.2:c.5403G>C	XP_011543352.1:p.Leu1801=
XM_017017778.1:c.5751G>C	XP_016873267.1:p.Leu1917=
XM_017017779.1:c.5748G>C	XP_016873268.1:p.Leu1916=
XM_017017780.1:c.5757G>C	XP_016873269.1:p.Leu1919=
XM_017017781.1:c.5661G>C	XP_016873270.1:p.Leu1887=
XM_017017782.1:c.5643G>C	XP_016873271.1:p.Leu1881=
XM_017017783.1:c.5640G>C	XP_016873272.1:p.Leu1880=
XM_017017784.1:c.5640G>C	XP_016873273.1:p.Leu1880=
XM_017017785.1:c.5520G>C	XP_016873274.1:p.Leu1840=
XM_017017786.1:c.5757G>C	XP_016873275.1:p.Leu1919=
XM_017017788.1:c.5643G>C	XP_016873277.1:p.Leu1881=
XR_001747885.1:n.5772G>C
XR_001747886.1:n.5687G>C
XR_001747887.1:n.5758G>C
NM_000260.4:c.5667G>C MANE Select	NP_000251.3:p.Leu1889=
NM_001127180.2:c.5553G>C	NP_001120652.1:p.Leu1851=
NM_001369365.1:c.5520G>C	NP_001356294.1:p.Leu1840=