Canonical Allele Identifier: CA2573053568

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 1334124
• ClinVar RCV Id: RCV001809336
• dbSNP Id: rs2135785880

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211329dup , CM000673.2:g.77211329dup	GRCh38
NC_000011.9:g.76922374dup , CM000673.1:g.76922374dup	GRCh37
NC_000011.8:g.76600022dup	NCBI36
NG_009086.1:g.88065dup
NG_009086.2:g.88084dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6229dup MANE Select	ENSP00000386331.3:p.Trp2077LeufsTer?
ENST00000670577.1:c.4030dup
ENST00000409619.6:c.6082dup	ENSP00000386635.2:p.Trp2028LeufsTer?
ENST00000409709.7:c.6229dup	ENSP00000386331.3:p.Trp2077LeufsTer?
ENST00000458169.2:c.3655dup	ENSP00000417017.2:p.Trp1219LeufsTer?
ENST00000458637.6:c.6115dup	ENSP00000392185.2:p.Trp2039LeufsTer?
ENST00000481328.7:n.3765dup
ENST00000526863.2:n.25+418dup
ENST00000605744.1:n.1696dup
NM_000260.3:c.6229dup	NP_000251.3:p.Trp2077LeufsTer?
NM_001127180.1:c.6115dup	NP_001120652.1:p.Trp2039LeufsTer?
XM_005274012.2:c.6112dup	XP_005274069.1:p.Trp2038LeufsTer?
XM_006718558.2:c.6220dup	XP_006718621.1:p.Trp2074LeufsTer?
XM_006718559.2:c.6115dup	XP_006718622.1:p.Trp2039LeufsTer?
XM_006718560.2:c.6112dup	XP_006718623.1:p.Trp2038LeufsTer?
XM_006718561.2:c.6115dup	XP_006718624.1:p.Trp2039LeufsTer?
XM_011545044.1:c.6229dup	XP_011543346.1:p.Trp2077LeufsTer?
XM_011545045.1:c.6223dup	XP_011543347.1:p.Trp2075LeufsTer?
XM_011545046.1:c.6196dup	XP_011543348.1:p.Trp2066LeufsTer?
XM_011545047.1:c.6133dup	XP_011543349.1:p.Trp2045LeufsTer?
XM_011545048.1:c.6004dup	XP_011543350.1:p.Trp2002LeufsTer?
XM_011545049.1:c.5992dup	XP_011543351.1:p.Trp1998LeufsTer?
XM_011545050.1:c.5965dup	XP_011543352.1:p.Trp1989LeufsTer?
XM_011545051.1:c.6229dup	XP_011543353.1:p.Trp2077LeufsTer?
XR_949938.1:n.6549dup
XR_949941.1:n.6523dup
XM_011545044.2:c.6229dup	XP_011543346.1:p.Trp2077LeufsTer?
XM_011545046.2:c.6319dup	XP_011543348.2:p.Trp2107LeufsTer?
XM_011545050.2:c.5965dup	XP_011543352.1:p.Trp1989LeufsTer?
XM_017017778.1:c.6313dup	XP_016873267.1:p.Trp2105LeufsTer?
XM_017017779.1:c.6310dup	XP_016873268.1:p.Trp2104LeufsTer?
XM_017017780.1:c.6319dup	XP_016873269.1:p.Trp2107LeufsTer?
XM_017017781.1:c.6223dup	XP_016873270.1:p.Trp2075LeufsTer?
XM_017017782.1:c.6205dup	XP_016873271.1:p.Trp2069LeufsTer?
XM_017017783.1:c.6202dup	XP_016873272.1:p.Trp2068LeufsTer?
XM_017017784.1:c.6202dup	XP_016873273.1:p.Trp2068LeufsTer?
XM_017017785.1:c.6082dup	XP_016873274.1:p.Trp2028LeufsTer?
XM_017017786.1:c.6319dup	XP_016873275.1:p.Trp2107LeufsTer?
XM_017017788.1:c.6205dup	XP_016873277.1:p.Trp2069LeufsTer?
XR_001747885.1:n.6308dup
XR_001747887.1:n.6294dup
NM_000260.4:c.6229dup MANE Select	NP_000251.3:p.Trp2077LeufsTer?
NM_001127180.2:c.6115dup	NP_001120652.1:p.Trp2039LeufsTer?
NM_001369365.1:c.6082dup	NP_001356294.1:p.Trp2028LeufsTer?