Canonical Allele Identifier: CA381946904

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 1346426
• ClinVar RCV Id: RCV002041411
• dbSNP Id: rs2135549607
• MyVariant Identifiers: chr11:g.76900427A>C (hg19) ; chr11:g.77189382A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77189382A>C , CM000673.2:g.77189382A>C	GRCh38
NC_000011.9:g.76900427A>C , CM000673.1:g.76900427A>C	GRCh37
NC_000011.8:g.76578075A>C	NCBI36
NG_009086.1:g.66118A>C
NG_009086.2:g.66137A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.3542A>C MANE Select	ENSP00000386331.3:p.His1181Pro
ENST00000670577.1:c.1383A>C
ENST00000409619.6:c.3509A>C	ENSP00000386635.2:p.His1170Pro
ENST00000409709.7:c.3542A>C	ENSP00000386331.3:p.His1181Pro
ENST00000458169.2:c.1085A>C	ENSP00000417017.2:p.His362Pro
ENST00000458637.6:c.3542A>C	ENSP00000392185.2:p.His1181Pro
ENST00000467137.1:n.69A>C
ENST00000481328.7:n.1085A>C
NM_000260.3:c.3542A>C	NP_000251.3:p.His1181Pro
NM_001127180.1:c.3542A>C	NP_001120652.1:p.His1181Pro
XM_005274012.2:c.3542A>C	XP_005274069.1:p.His1181Pro
XM_006718558.2:c.3542A>C	XP_006718621.1:p.His1181Pro
XM_006718559.2:c.3542A>C	XP_006718622.1:p.His1181Pro
XM_006718560.2:c.3542A>C	XP_006718623.1:p.His1181Pro
XM_006718561.2:c.3542A>C	XP_006718624.1:p.His1181Pro
XM_011545044.1:c.3542A>C	XP_011543346.1:p.His1181Pro
XM_011545045.1:c.3542A>C	XP_011543347.1:p.His1181Pro
XM_011545046.1:c.3509A>C	XP_011543348.1:p.His1170Pro
XM_011545047.1:c.3452A>C	XP_011543349.1:p.His1151Pro
XM_011545048.1:c.3323A>C	XP_011543350.1:p.His1108Pro
XM_011545049.1:c.3311A>C	XP_011543351.1:p.His1104Pro
XM_011545050.1:c.3284A>C	XP_011543352.1:p.His1095Pro
XM_011545051.1:c.3542A>C	XP_011543353.1:p.His1181Pro
XM_011545052.1:c.3542A>C	XP_011543354.1:p.His1181Pro
XR_949938.1:n.3862A>C
XR_949941.1:n.3862A>C
XR_949942.1:n.3864A>C
XR_949943.1:n.3864A>C
XM_011545044.2:c.3542A>C	XP_011543346.1:p.His1181Pro
XM_011545046.2:c.3632A>C	XP_011543348.2:p.His1211Pro
XM_011545050.2:c.3284A>C	XP_011543352.1:p.His1095Pro
XM_017017778.1:c.3632A>C	XP_016873267.1:p.His1211Pro
XM_017017779.1:c.3632A>C	XP_016873268.1:p.His1211Pro
XM_017017780.1:c.3632A>C	XP_016873269.1:p.His1211Pro
XM_017017781.1:c.3542A>C	XP_016873270.1:p.His1181Pro
XM_017017782.1:c.3632A>C	XP_016873271.1:p.His1211Pro
XM_017017783.1:c.3632A>C	XP_016873272.1:p.His1211Pro
XM_017017784.1:c.3632A>C	XP_016873273.1:p.His1211Pro
XM_017017785.1:c.3401A>C	XP_016873274.1:p.His1134Pro
XM_017017786.1:c.3632A>C	XP_016873275.1:p.His1211Pro
XM_017017787.1:c.3632A>C	XP_016873276.1:p.His1211Pro
XM_017017788.1:c.3632A>C	XP_016873277.1:p.His1211Pro
XR_001747885.1:n.3647A>C
XR_001747886.1:n.3647A>C
XR_001747887.1:n.3647A>C
XR_001747888.1:n.3647A>C
XR_001747889.1:n.3647A>C
NM_000260.4:c.3542A>C MANE Select	NP_000251.3:p.His1181Pro
NM_001127180.2:c.3542A>C	NP_001120652.1:p.His1181Pro
NM_001369365.1:c.3509A>C	NP_001356294.1:p.His1170Pro