Canonical Allele Identifier: CA475796664
Gene: MYO7A HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.76910844G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77199799G>C , CM000673.2:g.77199799G>C GRCh38
NC_000011.9:g.76910844G>C , CM000673.1:g.76910844G>C GRCh37
NC_000011.8:g.76588492G>C NCBI36
NG_009086.1:g.76535G>C
NG_009086.2:g.76554G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.4833G>C MANE Select ENSP00000386331.3:p.Leu1611=
ENST00000670577.1:c.2674G>C
ENST00000409619.6:c.4686G>C ENSP00000386635.2:p.Leu1562=
ENST00000409709.7:c.4833G>C ENSP00000386331.3:p.Leu1611=
ENST00000458169.2:c.2262G>C ENSP00000417017.2:p.Leu754=
ENST00000458637.6:c.4719G>C ENSP00000392185.2:p.Leu1573=
ENST00000481328.7:n.2372G>C
NM_000260.3:c.4833G>C NP_000251.3:p.Leu1611=
NM_001127180.1:c.4719G>C NP_001120652.1:p.Leu1573=
XM_005274012.2:c.4719G>C XP_005274069.1:p.Leu1573=
XM_006718558.2:c.4827G>C XP_006718621.1:p.Leu1609=
XM_006718559.2:c.4719G>C XP_006718622.1:p.Leu1573=
XM_006718560.2:c.4719G>C XP_006718623.1:p.Leu1573=
XM_006718561.2:c.4719G>C XP_006718624.1:p.Leu1573=
XM_011545044.1:c.4833G>C XP_011543346.1:p.Leu1611=
XM_011545045.1:c.4827G>C XP_011543347.1:p.Leu1609=
XM_011545046.1:c.4800G>C XP_011543348.1:p.Leu1600=
XM_011545047.1:c.4737G>C XP_011543349.1:p.Leu1579=
XM_011545048.1:c.4608G>C XP_011543350.1:p.Leu1536=
XM_011545049.1:c.4596G>C XP_011543351.1:p.Leu1532=
XM_011545050.1:c.4569G>C XP_011543352.1:p.Leu1523=
XM_011545051.1:c.4833G>C XP_011543353.1:p.Leu1611=
XM_011545052.1:c.4833G>C XP_011543354.1:p.Leu1611=
XR_949938.1:n.5153G>C
XR_949941.1:n.5153G>C
XR_949942.1:n.5155G>C
XM_011545044.2:c.4833G>C XP_011543346.1:p.Leu1611=
XM_011545046.2:c.4923G>C XP_011543348.2:p.Leu1641=
XM_011545050.2:c.4569G>C XP_011543352.1:p.Leu1523=
XM_017017778.1:c.4917G>C XP_016873267.1:p.Leu1639=
XM_017017779.1:c.4917G>C XP_016873268.1:p.Leu1639=
XM_017017780.1:c.4923G>C XP_016873269.1:p.Leu1641=
XM_017017781.1:c.4827G>C XP_016873270.1:p.Leu1609=
XM_017017782.1:c.4809G>C XP_016873271.1:p.Leu1603=
XM_017017783.1:c.4809G>C XP_016873272.1:p.Leu1603=
XM_017017784.1:c.4809G>C XP_016873273.1:p.Leu1603=
XM_017017785.1:c.4686G>C XP_016873274.1:p.Leu1562=
XM_017017786.1:c.4923G>C XP_016873275.1:p.Leu1641=
XM_017017788.1:c.4809G>C XP_016873277.1:p.Leu1603=
XR_001747885.1:n.4938G>C
XR_001747886.1:n.4938G>C
XR_001747887.1:n.4938G>C
XR_001747888.1:n.4938G>C
NM_000260.4:c.4833G>C MANE Select NP_000251.3:p.Leu1611=
NM_001127180.2:c.4719G>C NP_001120652.1:p.Leu1573=
NM_001369365.1:c.4686G>C NP_001356294.1:p.Leu1562=