Canonical Allele Identifier: CA381935880

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 957900
• ClinVar RCV Id: RCV001230968
• dbSNP Id: rs1957845045
• MyVariant Identifiers: chr11:g.76922280G>C (hg19) ; chr11:g.77211235G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211235G>C , CM000673.2:g.77211235G>C	GRCh38
NC_000011.9:g.76922280G>C , CM000673.1:g.76922280G>C	GRCh37
NC_000011.8:g.76599928G>C	NCBI36
NG_009086.1:g.87971G>C
NG_009086.2:g.87990G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.6135G>C MANE Select	ENSP00000386331.3:p.Lys2045Asn
ENST00000670577.1:c.3936G>C
ENST00000409619.6:c.5988G>C	ENSP00000386635.2:p.Lys1996Asn
ENST00000409709.7:c.6135G>C	ENSP00000386331.3:p.Lys2045Asn
ENST00000458169.2:c.3561G>C	ENSP00000417017.2:p.Lys1187Asn
ENST00000458637.6:c.6021G>C	ENSP00000392185.2:p.Lys2007Asn
ENST00000481328.7:n.3671G>C
ENST00000526863.2:n.25+324G>C
ENST00000605744.1:n.1602G>C
NM_000260.3:c.6135G>C	NP_000251.3:p.Lys2045Asn
NM_001127180.1:c.6021G>C	NP_001120652.1:p.Lys2007Asn
XM_005274012.2:c.6018G>C	XP_005274069.1:p.Lys2006Asn
XM_006718558.2:c.6126G>C	XP_006718621.1:p.Lys2042Asn
XM_006718559.2:c.6021G>C	XP_006718622.1:p.Lys2007Asn
XM_006718560.2:c.6018G>C	XP_006718623.1:p.Lys2006Asn
XM_006718561.2:c.6021G>C	XP_006718624.1:p.Lys2007Asn
XM_011545044.1:c.6135G>C	XP_011543346.1:p.Lys2045Asn
XM_011545045.1:c.6129G>C	XP_011543347.1:p.Lys2043Asn
XM_011545046.1:c.6102G>C	XP_011543348.1:p.Lys2034Asn
XM_011545047.1:c.6039G>C	XP_011543349.1:p.Lys2013Asn
XM_011545048.1:c.5910G>C	XP_011543350.1:p.Lys1970Asn
XM_011545049.1:c.5898G>C	XP_011543351.1:p.Lys1966Asn
XM_011545050.1:c.5871G>C	XP_011543352.1:p.Lys1957Asn
XM_011545051.1:c.6135G>C	XP_011543353.1:p.Lys2045Asn
XR_949938.1:n.6455G>C
XR_949941.1:n.6429G>C
XM_011545044.2:c.6135G>C	XP_011543346.1:p.Lys2045Asn
XM_011545046.2:c.6225G>C	XP_011543348.2:p.Lys2075Asn
XM_011545050.2:c.5871G>C	XP_011543352.1:p.Lys1957Asn
XM_017017778.1:c.6219G>C	XP_016873267.1:p.Lys2073Asn
XM_017017779.1:c.6216G>C	XP_016873268.1:p.Lys2072Asn
XM_017017780.1:c.6225G>C	XP_016873269.1:p.Lys2075Asn
XM_017017781.1:c.6129G>C	XP_016873270.1:p.Lys2043Asn
XM_017017782.1:c.6111G>C	XP_016873271.1:p.Lys2037Asn
XM_017017783.1:c.6108G>C	XP_016873272.1:p.Lys2036Asn
XM_017017784.1:c.6108G>C	XP_016873273.1:p.Lys2036Asn
XM_017017785.1:c.5988G>C	XP_016873274.1:p.Lys1996Asn
XM_017017786.1:c.6225G>C	XP_016873275.1:p.Lys2075Asn
XM_017017788.1:c.6111G>C	XP_016873277.1:p.Lys2037Asn
XR_001747885.1:n.6214G>C
XR_001747886.1:n.6155G>C
XR_001747887.1:n.6200G>C
NM_000260.4:c.6135G>C MANE Select	NP_000251.3:p.Lys2045Asn
NM_001127180.2:c.6021G>C	NP_001120652.1:p.Lys2007Asn
NM_001369365.1:c.5988G>C	NP_001356294.1:p.Lys1996Asn