Canonical Allele Identifier: CA182434

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 178493
• ClinVar RCV Id: RCV000155241 ; RCV000842733 ; RCV001111950 ; RCV001111952 ; RCV001111951 ; RCV004544434
• dbSNP Id: rs367738288
• ExAC: 11:76924005 G / A
• gnomAD v2: 11-76924005-G-A
• gnomAD v3: 11-77212960-G-A
• gnomAD v4: 11-77212960-G-A
• MyVariant Identifiers: chr11:g.76924005G>A (hg19) ; chr11:g.77212960G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77212960G>A , CM000673.2:g.77212960G>A	GRCh38
NC_000011.9:g.76924005G>A , CM000673.1:g.76924005G>A	GRCh37
NC_000011.8:g.76601653G>A	NCBI36
NG_009086.1:g.89696G>A
NG_009086.2:g.89715G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6363G>A MANE Select	ENSP00000386331.3:p.Thr2121=
ENST00000670577.1:c.4164G>A
ENST00000409619.6:c.6216G>A	ENSP00000386635.2:p.Thr2072=
ENST00000409709.7:c.6363G>A	ENSP00000386331.3:p.Thr2121=
ENST00000458169.2:c.3789G>A	ENSP00000417017.2:p.Thr1263=
ENST00000458637.6:c.6243G>A	ENSP00000392185.2:p.Thr2081=
ENST00000481328.7:n.4913G>A
ENST00000481532.1:n.426G>A
ENST00000526863.2:n.441G>A
ENST00000605744.1:n.1877G>A
NM_000260.3:c.6363G>A	NP_000251.3:p.Thr2121=
NM_001127180.1:c.6243G>A	NP_001120652.1:p.Thr2081=
XM_005274012.2:c.6246G>A	XP_005274069.1:p.Thr2082=
XM_006718561.2:c.6249G>A	XP_006718624.1:p.Thr2083=
XM_011545051.1:c.*35G>A	XP_011543353.1:n.*35G>A
XR_949941.1:n.6657G>A
XM_017017780.1:c.6453G>A	XP_016873269.1:p.Thr2151=
XM_017017784.1:c.6336G>A	XP_016873273.1:p.Thr2112=
XM_017017786.1:c.*35G>A	XP_016873275.1:n.*35G>A
XM_017017788.1:c.6339G>A	XP_016873277.1:p.Thr2113=
XR_001747885.1:n.6442G>A
XR_001747887.1:n.6428G>A
NM_000260.4:c.6363G>A MANE Select	NP_000251.3:p.Thr2121=
NM_001127180.2:c.6243G>A	NP_001120652.1:p.Thr2081=
NM_001369365.1:c.6216G>A	NP_001356294.1:p.Thr2072=