Canonical Allele Identifier: CA475792059

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 1566535
• ClinVar RCV Id: RCV002220435
• dbSNP Id: rs1310187658
• gnomAD v2: 11-76922361-C-T
• gnomAD v3: 11-77211316-C-T
• gnomAD v4: 11-77211316-C-T
• MyVariant Identifiers: chr11:g.76922361C>T (hg19) ; chr11:g.77211316C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211316C>T , CM000673.2:g.77211316C>T	GRCh38
NC_000011.9:g.76922361C>T , CM000673.1:g.76922361C>T	GRCh37
NC_000011.8:g.76600009C>T	NCBI36
NG_009086.1:g.88052C>T
NG_009086.2:g.88071C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6216C>T MANE Select	ENSP00000386331.3:p.Val2072=
ENST00000670577.1:c.4017C>T
ENST00000409619.6:c.6069C>T	ENSP00000386635.2:p.Val2023=
ENST00000409709.7:c.6216C>T	ENSP00000386331.3:p.Val2072=
ENST00000458169.2:c.3642C>T	ENSP00000417017.2:p.Val1214=
ENST00000458637.6:c.6102C>T	ENSP00000392185.2:p.Val2034=
ENST00000481328.7:n.3752C>T
ENST00000526863.2:n.25+405C>T
ENST00000605744.1:n.1683C>T
NM_000260.3:c.6216C>T	NP_000251.3:p.Val2072=
NM_001127180.1:c.6102C>T	NP_001120652.1:p.Val2034=
XM_005274012.2:c.6099C>T	XP_005274069.1:p.Val2033=
XM_006718558.2:c.6207C>T	XP_006718621.1:p.Val2069=
XM_006718559.2:c.6102C>T	XP_006718622.1:p.Val2034=
XM_006718560.2:c.6099C>T	XP_006718623.1:p.Val2033=
XM_006718561.2:c.6102C>T	XP_006718624.1:p.Val2034=
XM_011545044.1:c.6216C>T	XP_011543346.1:p.Val2072=
XM_011545045.1:c.6210C>T	XP_011543347.1:p.Val2070=
XM_011545046.1:c.6183C>T	XP_011543348.1:p.Val2061=
XM_011545047.1:c.6120C>T	XP_011543349.1:p.Val2040=
XM_011545048.1:c.5991C>T	XP_011543350.1:p.Val1997=
XM_011545049.1:c.5979C>T	XP_011543351.1:p.Val1993=
XM_011545050.1:c.5952C>T	XP_011543352.1:p.Val1984=
XM_011545051.1:c.6216C>T	XP_011543353.1:p.Val2072=
XR_949938.1:n.6536C>T
XR_949941.1:n.6510C>T
XM_011545044.2:c.6216C>T	XP_011543346.1:p.Val2072=
XM_011545046.2:c.6306C>T	XP_011543348.2:p.Val2102=
XM_011545050.2:c.5952C>T	XP_011543352.1:p.Val1984=
XM_017017778.1:c.6300C>T	XP_016873267.1:p.Val2100=
XM_017017779.1:c.6297C>T	XP_016873268.1:p.Val2099=
XM_017017780.1:c.6306C>T	XP_016873269.1:p.Val2102=
XM_017017781.1:c.6210C>T	XP_016873270.1:p.Val2070=
XM_017017782.1:c.6192C>T	XP_016873271.1:p.Val2064=
XM_017017783.1:c.6189C>T	XP_016873272.1:p.Val2063=
XM_017017784.1:c.6189C>T	XP_016873273.1:p.Val2063=
XM_017017785.1:c.6069C>T	XP_016873274.1:p.Val2023=
XM_017017786.1:c.6306C>T	XP_016873275.1:p.Val2102=
XM_017017788.1:c.6192C>T	XP_016873277.1:p.Val2064=
XR_001747885.1:n.6295C>T
XR_001747887.1:n.6281C>T
NM_000260.4:c.6216C>T MANE Select	NP_000251.3:p.Val2072=
NM_001127180.2:c.6102C>T	NP_001120652.1:p.Val2034=
NM_001369365.1:c.6069C>T	NP_001356294.1:p.Val2023=