Canonical Allele Identifier: CA278690

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 43295
• ClinVar RCV Id: RCV000036200 ; RCV000669133 ; RCV001223334 ; RCV001291104 ; RCV001376326
• dbSNP Id: rs199606180
• ExAC: 11:76917165 C / T
• gnomAD v2: 11-76917165-C-T
• gnomAD v3: 11-77206120-C-T
• gnomAD v4: 11-77206120-C-T
• COSMIC: COSM1258577
• MyVariant Identifiers: chr11:g.76917165C>T (hg19) ; chr11:g.77206120C>T (hg38)
• PubMed: PMID:10930322 ; PMID:24194196

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77206120C>T , CM000673.2:g.77206120C>T	GRCh38
NC_000011.9:g.76917165C>T , CM000673.1:g.76917165C>T	GRCh37
NC_000011.8:g.76594813C>T	NCBI36
NG_009086.1:g.82856C>T
NG_009086.2:g.82875C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.5660C>T MANE Select	ENSP00000386331.3:p.Pro1887Leu
ENST00000670577.1:c.3487C>T
ENST00000409619.6:c.5513C>T	ENSP00000386635.2:p.Pro1838Leu
ENST00000409709.7:c.5660C>T	ENSP00000386331.3:p.Pro1887Leu
ENST00000458169.2:c.3086C>T	ENSP00000417017.2:p.Pro1029Leu
ENST00000458637.6:c.5546C>T	ENSP00000392185.2:p.Pro1849Leu
ENST00000481328.7:n.3196C>T
ENST00000605744.1:n.281C>T
NM_000260.3:c.5660C>T	NP_000251.3:p.Pro1887Leu
NM_001127180.1:c.5546C>T	NP_001120652.1:p.Pro1849Leu
XM_005274012.2:c.5543C>T	XP_005274069.1:p.Pro1848Leu
XM_006718558.2:c.5651C>T	XP_006718621.1:p.Pro1884Leu
XM_006718559.2:c.5546C>T	XP_006718622.1:p.Pro1849Leu
XM_006718560.2:c.5543C>T	XP_006718623.1:p.Pro1848Leu
XM_006718561.2:c.5546C>T	XP_006718624.1:p.Pro1849Leu
XM_011545044.1:c.5660C>T	XP_011543346.1:p.Pro1887Leu
XM_011545045.1:c.5654C>T	XP_011543347.1:p.Pro1885Leu
XM_011545046.1:c.5627C>T	XP_011543348.1:p.Pro1876Leu
XM_011545047.1:c.5564C>T	XP_011543349.1:p.Pro1855Leu
XM_011545048.1:c.5435C>T	XP_011543350.1:p.Pro1812Leu
XM_011545049.1:c.5423C>T	XP_011543351.1:p.Pro1808Leu
XM_011545050.1:c.5396C>T	XP_011543352.1:p.Pro1799Leu
XM_011545051.1:c.5660C>T	XP_011543353.1:p.Pro1887Leu
XM_011545052.1:c.*25C>T	XP_011543354.1:n.*25C>T
XR_949938.1:n.5980C>T
XR_949941.1:n.5980C>T
XM_011545044.2:c.5660C>T	XP_011543346.1:p.Pro1887Leu
XM_011545046.2:c.5750C>T	XP_011543348.2:p.Pro1917Leu
XM_011545050.2:c.5396C>T	XP_011543352.1:p.Pro1799Leu
XM_017017778.1:c.5744C>T	XP_016873267.1:p.Pro1915Leu
XM_017017779.1:c.5741C>T	XP_016873268.1:p.Pro1914Leu
XM_017017780.1:c.5750C>T	XP_016873269.1:p.Pro1917Leu
XM_017017781.1:c.5654C>T	XP_016873270.1:p.Pro1885Leu
XM_017017782.1:c.5636C>T	XP_016873271.1:p.Pro1879Leu
XM_017017783.1:c.5633C>T	XP_016873272.1:p.Pro1878Leu
XM_017017784.1:c.5633C>T	XP_016873273.1:p.Pro1878Leu
XM_017017785.1:c.5513C>T	XP_016873274.1:p.Pro1838Leu
XM_017017786.1:c.5750C>T	XP_016873275.1:p.Pro1917Leu
XM_017017788.1:c.5636C>T	XP_016873277.1:p.Pro1879Leu
XR_001747885.1:n.5765C>T
XR_001747886.1:n.5680C>T
XR_001747887.1:n.5751C>T
NM_000260.4:c.5660C>T MANE Select	NP_000251.3:p.Pro1887Leu
NM_001127180.2:c.5546C>T	NP_001120652.1:p.Pro1849Leu
NM_001369365.1:c.5513C>T	NP_001356294.1:p.Pro1838Leu