Canonical Allele Identifier: CA132328

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 43243
• ClinVar RCV Id: RCV000036147 ; RCV001826548 ; RCV001241478 ; RCV004018786
• dbSNP Id: rs369768947
• ExAC: 11:76909569 G / A
• gnomAD v2: 11-76909569-G-A
• gnomAD v3: 11-77198524-G-A
• gnomAD v4: 11-77198524-G-A
• MyVariant Identifiers: chr11:g.76909569G>A (hg19) ; chr11:g.77198524G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77198524G>A , CM000673.2:g.77198524G>A	GRCh38
NC_000011.9:g.76909569G>A , CM000673.1:g.76909569G>A	GRCh37
NC_000011.8:g.76587217G>A	NCBI36
NG_009086.1:g.75260G>A
NG_009086.2:g.75279G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.4471G>A MANE Select	ENSP00000386331.3:p.Val1491Met
ENST00000670577.1:c.2312G>A
ENST00000409619.6:c.4438G>A	ENSP00000386635.2:p.Val1480Met
ENST00000409709.7:c.4471G>A	ENSP00000386331.3:p.Val1491Met
ENST00000458169.2:c.2014G>A	ENSP00000417017.2:p.Val672Met
ENST00000458637.6:c.4471G>A	ENSP00000392185.2:p.Val1491Met
ENST00000481328.7:n.2124G>A
NM_000260.3:c.4471G>A	NP_000251.3:p.Val1491Met
NM_001127180.1:c.4471G>A	NP_001120652.1:p.Val1491Met
XM_005274012.2:c.4471G>A	XP_005274069.1:p.Val1491Met
XM_006718558.2:c.4579G>A	XP_006718621.1:p.Val1527Met
XM_006718559.2:c.4471G>A	XP_006718622.1:p.Val1491Met
XM_006718560.2:c.4471G>A	XP_006718623.1:p.Val1491Met
XM_006718561.2:c.4471G>A	XP_006718624.1:p.Val1491Met
XM_011545044.1:c.4471G>A	XP_011543346.1:p.Val1491Met
XM_011545045.1:c.4579G>A	XP_011543347.1:p.Val1527Met
XM_011545046.1:c.4438G>A	XP_011543348.1:p.Val1480Met
XM_011545047.1:c.4489G>A	XP_011543349.1:p.Val1497Met
XM_011545048.1:c.4360G>A	XP_011543350.1:p.Val1454Met
XM_011545049.1:c.4348G>A	XP_011543351.1:p.Val1450Met
XM_011545050.1:c.4321G>A	XP_011543352.1:p.Val1441Met
XM_011545051.1:c.4471G>A	XP_011543353.1:p.Val1491Met
XM_011545052.1:c.4471G>A	XP_011543354.1:p.Val1491Met
XR_949938.1:n.4791G>A
XR_949941.1:n.4791G>A
XR_949942.1:n.4793G>A
XM_011545044.2:c.4471G>A	XP_011543346.1:p.Val1491Met
XM_011545046.2:c.4561G>A	XP_011543348.2:p.Val1521Met
XM_011545050.2:c.4321G>A	XP_011543352.1:p.Val1441Met
XM_017017778.1:c.4669G>A	XP_016873267.1:p.Val1557Met
XM_017017779.1:c.4669G>A	XP_016873268.1:p.Val1557Met
XM_017017780.1:c.4561G>A	XP_016873269.1:p.Val1521Met
XM_017017781.1:c.4579G>A	XP_016873270.1:p.Val1527Met
XM_017017782.1:c.4561G>A	XP_016873271.1:p.Val1521Met
XM_017017783.1:c.4561G>A	XP_016873272.1:p.Val1521Met
XM_017017784.1:c.4561G>A	XP_016873273.1:p.Val1521Met
XM_017017785.1:c.4438G>A	XP_016873274.1:p.Val1480Met
XM_017017786.1:c.4561G>A	XP_016873275.1:p.Val1521Met
XM_017017788.1:c.4561G>A	XP_016873277.1:p.Val1521Met
XR_001747885.1:n.4576G>A
XR_001747886.1:n.4576G>A
XR_001747887.1:n.4576G>A
XR_001747888.1:n.4576G>A
NM_000260.4:c.4471G>A MANE Select	NP_000251.3:p.Val1491Met
NM_001127180.2:c.4471G>A	NP_001120652.1:p.Val1491Met
NM_001369365.1:c.4438G>A	NP_001356294.1:p.Val1480Met