Canonical Allele Identifier: CA381950232

Gene: MYO7A

Linked Data

• dbSNP Id: rs1166360041
• gnomAD v2: 11-76909555-A-G
• gnomAD v4: 11-77198510-A-G
• MyVariant Identifiers: chr11:g.76909555A>G (hg19) ; chr11:g.77198510A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77198510A>G , CM000673.2:g.77198510A>G	GRCh38
NC_000011.9:g.76909555A>G , CM000673.1:g.76909555A>G	GRCh37
NC_000011.8:g.76587203A>G	NCBI36
NG_009086.1:g.75246A>G
NG_009086.2:g.75265A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.4457A>G MANE Select	ENSP00000386331.3:p.Lys1486Arg
ENST00000670577.1:c.2298A>G
ENST00000409619.6:c.4424A>G	ENSP00000386635.2:p.Lys1475Arg
ENST00000409709.7:c.4457A>G	ENSP00000386331.3:p.Lys1486Arg
ENST00000458169.2:c.2000A>G	ENSP00000417017.2:p.Lys667Arg
ENST00000458637.6:c.4457A>G	ENSP00000392185.2:p.Lys1486Arg
ENST00000481328.7:n.2110A>G
NM_000260.3:c.4457A>G	NP_000251.3:p.Lys1486Arg
NM_001127180.1:c.4457A>G	NP_001120652.1:p.Lys1486Arg
XM_005274012.2:c.4457A>G	XP_005274069.1:p.Lys1486Arg
XM_006718558.2:c.4565A>G	XP_006718621.1:p.Lys1522Arg
XM_006718559.2:c.4457A>G	XP_006718622.1:p.Lys1486Arg
XM_006718560.2:c.4457A>G	XP_006718623.1:p.Lys1486Arg
XM_006718561.2:c.4457A>G	XP_006718624.1:p.Lys1486Arg
XM_011545044.1:c.4457A>G	XP_011543346.1:p.Lys1486Arg
XM_011545045.1:c.4565A>G	XP_011543347.1:p.Lys1522Arg
XM_011545046.1:c.4424A>G	XP_011543348.1:p.Lys1475Arg
XM_011545047.1:c.4475A>G	XP_011543349.1:p.Lys1492Arg
XM_011545048.1:c.4346A>G	XP_011543350.1:p.Lys1449Arg
XM_011545049.1:c.4334A>G	XP_011543351.1:p.Lys1445Arg
XM_011545050.1:c.4307A>G	XP_011543352.1:p.Lys1436Arg
XM_011545051.1:c.4457A>G	XP_011543353.1:p.Lys1486Arg
XM_011545052.1:c.4457A>G	XP_011543354.1:p.Lys1486Arg
XR_949938.1:n.4777A>G
XR_949941.1:n.4777A>G
XR_949942.1:n.4779A>G
XM_011545044.2:c.4457A>G	XP_011543346.1:p.Lys1486Arg
XM_011545046.2:c.4547A>G	XP_011543348.2:p.Lys1516Arg
XM_011545050.2:c.4307A>G	XP_011543352.1:p.Lys1436Arg
XM_017017778.1:c.4655A>G	XP_016873267.1:p.Lys1552Arg
XM_017017779.1:c.4655A>G	XP_016873268.1:p.Lys1552Arg
XM_017017780.1:c.4547A>G	XP_016873269.1:p.Lys1516Arg
XM_017017781.1:c.4565A>G	XP_016873270.1:p.Lys1522Arg
XM_017017782.1:c.4547A>G	XP_016873271.1:p.Lys1516Arg
XM_017017783.1:c.4547A>G	XP_016873272.1:p.Lys1516Arg
XM_017017784.1:c.4547A>G	XP_016873273.1:p.Lys1516Arg
XM_017017785.1:c.4424A>G	XP_016873274.1:p.Lys1475Arg
XM_017017786.1:c.4547A>G	XP_016873275.1:p.Lys1516Arg
XM_017017788.1:c.4547A>G	XP_016873277.1:p.Lys1516Arg
XR_001747885.1:n.4562A>G
XR_001747886.1:n.4562A>G
XR_001747887.1:n.4562A>G
XR_001747888.1:n.4562A>G
NM_000260.4:c.4457A>G MANE Select	NP_000251.3:p.Lys1486Arg
NM_001127180.2:c.4457A>G	NP_001120652.1:p.Lys1486Arg
NM_001369365.1:c.4424A>G	NP_001356294.1:p.Lys1475Arg