Canonical Allele Identifier: CA278745

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 179745
• ClinVar RCV Id: RCV000156543 ; RCV001850162 ; RCV003326124
• dbSNP Id: rs730880367
• MyVariant Identifiers: chr11:g.76922376dupG (hg19) ; chr11:g.77211331dupG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211331dup , CM000673.2:g.77211331dup	GRCh38
NC_000011.9:g.76922376dup , CM000673.1:g.76922376dup	GRCh37
NC_000011.8:g.76600024dup	NCBI36
NG_009086.1:g.88067dup
NG_009086.2:g.88086dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.6231dup MANE Select	ENSP00000386331.3:p.Lys2078GlufsTer?
ENST00000670577.1:c.4032dup
ENST00000409619.6:c.6084dup	ENSP00000386635.2:p.Lys2029GlufsTer?
ENST00000409709.7:c.6231dup	ENSP00000386331.3:p.Lys2078GlufsTer?
ENST00000458169.2:c.3657dup	ENSP00000417017.2:p.Lys1220GlufsTer?
ENST00000458637.6:c.6117dup	ENSP00000392185.2:p.Lys2040GlufsTer?
ENST00000481328.7:n.3767dup
ENST00000526863.2:n.25+420dup
ENST00000605744.1:n.1698dup
NM_000260.3:c.6231dup	NP_000251.3:p.Lys2078GlufsTer?
NM_001127180.1:c.6117dup	NP_001120652.1:p.Lys2040GlufsTer?
XM_005274012.2:c.6114dup	XP_005274069.1:p.Lys2039GlufsTer?
XM_006718558.2:c.6222dup	XP_006718621.1:p.Lys2075GlufsTer?
XM_006718559.2:c.6117dup	XP_006718622.1:p.Lys2040GlufsTer?
XM_006718560.2:c.6114dup	XP_006718623.1:p.Lys2039GlufsTer?
XM_006718561.2:c.6117dup	XP_006718624.1:p.Lys2040GlufsTer?
XM_011545044.1:c.6231dup	XP_011543346.1:p.Lys2078GlufsTer?
XM_011545045.1:c.6225dup	XP_011543347.1:p.Lys2076GlufsTer?
XM_011545046.1:c.6198dup	XP_011543348.1:p.Lys2067GlufsTer?
XM_011545047.1:c.6135dup	XP_011543349.1:p.Lys2046GlufsTer?
XM_011545048.1:c.6006dup	XP_011543350.1:p.Lys2003GlufsTer?
XM_011545049.1:c.5994dup	XP_011543351.1:p.Lys1999GlufsTer?
XM_011545050.1:c.5967dup	XP_011543352.1:p.Lys1990GlufsTer?
XM_011545051.1:c.6231dup	XP_011543353.1:p.Lys2078GlufsTer?
XR_949938.1:n.6551dup
XR_949941.1:n.6525dup
XM_011545044.2:c.6231dup	XP_011543346.1:p.Lys2078GlufsTer?
XM_011545046.2:c.6321dup	XP_011543348.2:p.Lys2108GlufsTer?
XM_011545050.2:c.5967dup	XP_011543352.1:p.Lys1990GlufsTer?
XM_017017778.1:c.6315dup	XP_016873267.1:p.Lys2106GlufsTer?
XM_017017779.1:c.6312dup	XP_016873268.1:p.Lys2105GlufsTer?
XM_017017780.1:c.6321dup	XP_016873269.1:p.Lys2108GlufsTer?
XM_017017781.1:c.6225dup	XP_016873270.1:p.Lys2076GlufsTer?
XM_017017782.1:c.6207dup	XP_016873271.1:p.Lys2070GlufsTer?
XM_017017783.1:c.6204dup	XP_016873272.1:p.Lys2069GlufsTer?
XM_017017784.1:c.6204dup	XP_016873273.1:p.Lys2069GlufsTer?
XM_017017785.1:c.6084dup	XP_016873274.1:p.Lys2029GlufsTer?
XM_017017786.1:c.6321dup	XP_016873275.1:p.Lys2108GlufsTer?
XM_017017788.1:c.6207dup	XP_016873277.1:p.Lys2070GlufsTer?
XR_001747885.1:n.6310dup
XR_001747887.1:n.6296dup
NM_000260.4:c.6231dup MANE Select	NP_000251.3:p.Lys2078GlufsTer?
NM_001127180.2:c.6117dup	NP_001120652.1:p.Lys2040GlufsTer?
NM_001369365.1:c.6084dup	NP_001356294.1:p.Lys2029GlufsTer?