Canonical Allele Identifier: CA680425402

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 882289
• ClinVar RCV Id: RCV001111847 ; RCV001111848 ; RCV001111849
• dbSNP Id: rs1233077552
• gnomAD v4: 11-77208688-G-C
• MyVariant Identifiers: chr11:g.76919733G>C (hg19) ; chr11:g.77208688G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77208688G>C , CM000673.2:g.77208688G>C	GRCh38
NC_000011.9:g.76919733G>C , CM000673.1:g.76919733G>C	GRCh37
NC_000011.8:g.76597381G>C	NCBI36
NG_009086.1:g.85424G>C
NG_009086.2:g.85443G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.5945-9G>C MANE Select	ENSP00000386331.3:n.5945-9G>C
ENST00000670577.1:c.3772-35G>C
ENST00000409619.6:c.5798-9G>C	ENSP00000386635.2:n.5798-9G>C
ENST00000409709.7:c.5945-9G>C	ENSP00000386331.3:n.5945-9G>C
ENST00000458169.2:c.3371-9G>C	ENSP00000417017.2:n.3371-9G>C
ENST00000458637.6:c.5831-9G>C	ENSP00000392185.2:n.5831-9G>C
ENST00000481328.7:n.3481-9G>C
ENST00000605744.1:n.859-9G>C
NM_000260.3:c.5945-9G>C	NP_000251.3:n.5945-9G>C
NM_001127180.1:c.5831-9G>C	NP_001120652.1:n.5831-9G>C
XM_005274012.2:c.5828-9G>C	XP_005274069.1:n.5828-9G>C
XM_006718558.2:c.5936-9G>C	XP_006718621.1:n.5936-9G>C
XM_006718559.2:c.5831-9G>C	XP_006718622.1:n.5831-9G>C
XM_006718560.2:c.5828-9G>C	XP_006718623.1:n.5828-9G>C
XM_006718561.2:c.5831-9G>C	XP_006718624.1:n.5831-9G>C
XM_011545044.1:c.5945-9G>C	XP_011543346.1:n.5945-9G>C
XM_011545045.1:c.5939-9G>C	XP_011543347.1:n.5939-9G>C
XM_011545046.1:c.5912-9G>C	XP_011543348.1:n.5912-9G>C
XM_011545047.1:c.5849-9G>C	XP_011543349.1:n.5849-9G>C
XM_011545048.1:c.5720-9G>C	XP_011543350.1:n.5720-9G>C
XM_011545049.1:c.5708-9G>C	XP_011543351.1:n.5708-9G>C
XM_011545050.1:c.5681-9G>C	XP_011543352.1:n.5681-9G>C
XM_011545051.1:c.5945-9G>C	XP_011543353.1:n.5945-9G>C
XR_949938.1:n.6265-9G>C
XR_949941.1:n.6265-35G>C
XM_011545044.2:c.5945-9G>C	XP_011543346.1:n.5945-9G>C
XM_011545046.2:c.6035-9G>C	XP_011543348.2:n.6035-9G>C
XM_011545050.2:c.5681-9G>C	XP_011543352.1:n.5681-9G>C
XM_017017778.1:c.6029-9G>C	XP_016873267.1:n.6029-9G>C
XM_017017779.1:c.6026-9G>C	XP_016873268.1:n.6026-9G>C
XM_017017780.1:c.6035-9G>C	XP_016873269.1:n.6035-9G>C
XM_017017781.1:c.5939-9G>C	XP_016873270.1:n.5939-9G>C
XM_017017782.1:c.5921-9G>C	XP_016873271.1:n.5921-9G>C
XM_017017783.1:c.5918-9G>C	XP_016873272.1:n.5918-9G>C
XM_017017784.1:c.5918-9G>C	XP_016873273.1:n.5918-9G>C
XM_017017785.1:c.5798-9G>C	XP_016873274.1:n.5798-9G>C
XM_017017786.1:c.6035-9G>C	XP_016873275.1:n.6035-9G>C
XM_017017788.1:c.5921-9G>C	XP_016873277.1:n.5921-9G>C
XR_001747885.1:n.6050-35G>C
XR_001747886.1:n.5965-9G>C
XR_001747887.1:n.6036-35G>C
NM_000260.4:c.5945-9G>C MANE Select	NP_000251.3:n.5945-9G>C
NM_001127180.2:c.5831-9G>C	NP_001120652.1:n.5831-9G>C
NM_001369365.1:c.5798-9G>C	NP_001356294.1:n.5798-9G>C