Canonical Allele Identifier: CA381950923

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77199749-G-T
• MyVariant Identifiers: chr11:g.76910794G>T (hg19) ; chr11:g.77199749G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77199749G>T , CM000673.2:g.77199749G>T	GRCh38
NC_000011.9:g.76910794G>T , CM000673.1:g.76910794G>T	GRCh37
NC_000011.8:g.76588442G>T	NCBI36
NG_009086.1:g.76485G>T
NG_009086.2:g.76504G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.4783G>T MANE Select	ENSP00000386331.3:p.Val1595Phe
ENST00000670577.1:c.2624G>T
ENST00000409619.6:c.4636G>T	ENSP00000386635.2:p.Val1546Phe
ENST00000409709.7:c.4783G>T	ENSP00000386331.3:p.Val1595Phe
ENST00000458169.2:c.2212G>T	ENSP00000417017.2:p.Val738Phe
ENST00000458637.6:c.4669G>T	ENSP00000392185.2:p.Val1557Phe
ENST00000481328.7:n.2322G>T
NM_000260.3:c.4783G>T	NP_000251.3:p.Val1595Phe
NM_001127180.1:c.4669G>T	NP_001120652.1:p.Val1557Phe
XM_005274012.2:c.4669G>T	XP_005274069.1:p.Val1557Phe
XM_006718558.2:c.4777G>T	XP_006718621.1:p.Val1593Phe
XM_006718559.2:c.4669G>T	XP_006718622.1:p.Val1557Phe
XM_006718560.2:c.4669G>T	XP_006718623.1:p.Val1557Phe
XM_006718561.2:c.4669G>T	XP_006718624.1:p.Val1557Phe
XM_011545044.1:c.4783G>T	XP_011543346.1:p.Val1595Phe
XM_011545045.1:c.4777G>T	XP_011543347.1:p.Val1593Phe
XM_011545046.1:c.4750G>T	XP_011543348.1:p.Val1584Phe
XM_011545047.1:c.4687G>T	XP_011543349.1:p.Val1563Phe
XM_011545048.1:c.4558G>T	XP_011543350.1:p.Val1520Phe
XM_011545049.1:c.4546G>T	XP_011543351.1:p.Val1516Phe
XM_011545050.1:c.4519G>T	XP_011543352.1:p.Val1507Phe
XM_011545051.1:c.4783G>T	XP_011543353.1:p.Val1595Phe
XM_011545052.1:c.4783G>T	XP_011543354.1:p.Val1595Phe
XR_949938.1:n.5103G>T
XR_949941.1:n.5103G>T
XR_949942.1:n.5105G>T
XM_011545044.2:c.4783G>T	XP_011543346.1:p.Val1595Phe
XM_011545046.2:c.4873G>T	XP_011543348.2:p.Val1625Phe
XM_011545050.2:c.4519G>T	XP_011543352.1:p.Val1507Phe
XM_017017778.1:c.4867G>T	XP_016873267.1:p.Val1623Phe
XM_017017779.1:c.4867G>T	XP_016873268.1:p.Val1623Phe
XM_017017780.1:c.4873G>T	XP_016873269.1:p.Val1625Phe
XM_017017781.1:c.4777G>T	XP_016873270.1:p.Val1593Phe
XM_017017782.1:c.4759G>T	XP_016873271.1:p.Val1587Phe
XM_017017783.1:c.4759G>T	XP_016873272.1:p.Val1587Phe
XM_017017784.1:c.4759G>T	XP_016873273.1:p.Val1587Phe
XM_017017785.1:c.4636G>T	XP_016873274.1:p.Val1546Phe
XM_017017786.1:c.4873G>T	XP_016873275.1:p.Val1625Phe
XM_017017788.1:c.4759G>T	XP_016873277.1:p.Val1587Phe
XR_001747885.1:n.4888G>T
XR_001747886.1:n.4888G>T
XR_001747887.1:n.4888G>T
XR_001747888.1:n.4888G>T
NM_000260.4:c.4783G>T MANE Select	NP_000251.3:p.Val1595Phe
NM_001127180.2:c.4669G>T	NP_001120652.1:p.Val1557Phe
NM_001369365.1:c.4636G>T	NP_001356294.1:p.Val1546Phe