Canonical Allele Identifier: CA381954132

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 983823
• ClinVar RCV Id: RCV001263826
• dbSNP Id: rs1957520697
• MyVariant Identifiers: chr11:g.76918433A>T (hg19) ; chr11:g.77207388A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77207388A>T , CM000673.2:g.77207388A>T	GRCh38
NC_000011.9:g.76918433A>T , CM000673.1:g.76918433A>T	GRCh37
NC_000011.8:g.76596081A>T	NCBI36
NG_009086.1:g.84124A>T
NG_009086.2:g.84143A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.5842A>T MANE Select	ENSP00000386331.3:p.Lys1948Ter
ENST00000670577.1:c.3669A>T
ENST00000409619.6:c.5695A>T	ENSP00000386635.2:p.Lys1899Ter
ENST00000409709.7:c.5842A>T	ENSP00000386331.3:p.Lys1948Ter
ENST00000458169.2:c.3268A>T	ENSP00000417017.2:p.Lys1090Ter
ENST00000458637.6:c.5728A>T	ENSP00000392185.2:p.Lys1910Ter
ENST00000481328.7:n.3378A>T
ENST00000605744.1:n.756A>T
NM_000260.3:c.5842A>T	NP_000251.3:p.Lys1948Ter
NM_001127180.1:c.5728A>T	NP_001120652.1:p.Lys1910Ter
XM_005274012.2:c.5725A>T	XP_005274069.1:p.Lys1909Ter
XM_006718558.2:c.5833A>T	XP_006718621.1:p.Lys1945Ter
XM_006718559.2:c.5728A>T	XP_006718622.1:p.Lys1910Ter
XM_006718560.2:c.5725A>T	XP_006718623.1:p.Lys1909Ter
XM_006718561.2:c.5728A>T	XP_006718624.1:p.Lys1910Ter
XM_011545044.1:c.5842A>T	XP_011543346.1:p.Lys1948Ter
XM_011545045.1:c.5836A>T	XP_011543347.1:p.Lys1946Ter
XM_011545046.1:c.5809A>T	XP_011543348.1:p.Lys1937Ter
XM_011545047.1:c.5746A>T	XP_011543349.1:p.Lys1916Ter
XM_011545048.1:c.5617A>T	XP_011543350.1:p.Lys1873Ter
XM_011545049.1:c.5605A>T	XP_011543351.1:p.Lys1869Ter
XM_011545050.1:c.5578A>T	XP_011543352.1:p.Lys1860Ter
XM_011545051.1:c.5842A>T	XP_011543353.1:p.Lys1948Ter
XR_949938.1:n.6162A>T
XR_949941.1:n.6162A>T
XM_011545044.2:c.5842A>T	XP_011543346.1:p.Lys1948Ter
XM_011545046.2:c.5932A>T	XP_011543348.2:p.Lys1978Ter
XM_011545050.2:c.5578A>T	XP_011543352.1:p.Lys1860Ter
XM_017017778.1:c.5926A>T	XP_016873267.1:p.Lys1976Ter
XM_017017779.1:c.5923A>T	XP_016873268.1:p.Lys1975Ter
XM_017017780.1:c.5932A>T	XP_016873269.1:p.Lys1978Ter
XM_017017781.1:c.5836A>T	XP_016873270.1:p.Lys1946Ter
XM_017017782.1:c.5818A>T	XP_016873271.1:p.Lys1940Ter
XM_017017783.1:c.5815A>T	XP_016873272.1:p.Lys1939Ter
XM_017017784.1:c.5815A>T	XP_016873273.1:p.Lys1939Ter
XM_017017785.1:c.5695A>T	XP_016873274.1:p.Lys1899Ter
XM_017017786.1:c.5932A>T	XP_016873275.1:p.Lys1978Ter
XM_017017788.1:c.5818A>T	XP_016873277.1:p.Lys1940Ter
XR_001747885.1:n.5947A>T
XR_001747886.1:n.5862A>T
XR_001747887.1:n.5933A>T
NM_000260.4:c.5842A>T MANE Select	NP_000251.3:p.Lys1948Ter
NM_001127180.2:c.5728A>T	NP_001120652.1:p.Lys1910Ter
NM_001369365.1:c.5695A>T	NP_001356294.1:p.Lys1899Ter