Canonical Allele Identifier: CA381939514

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77214685-A-T
• MyVariant Identifiers: chr11:g.76925730A>T (hg19) ; chr11:g.77214685A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214685A>T , CM000673.2:g.77214685A>T	GRCh38
NC_000011.9:g.76925730A>T , CM000673.1:g.76925730A>T	GRCh37
NC_000011.8:g.76603378A>T	NCBI36
NG_009086.1:g.91421A>T
NG_009086.2:g.91440A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6637A>T MANE Select	ENSP00000386331.3:p.Ser2213Cys
ENST00000670577.1:c.4438A>T
ENST00000409619.6:c.6490A>T	ENSP00000386635.2:p.Ser2164Cys
ENST00000409709.7:c.6637A>T	ENSP00000386331.3:p.Ser2213Cys
ENST00000458169.2:c.4063A>T	ENSP00000417017.2:p.Ser1355Cys
ENST00000458637.6:c.6517A>T	ENSP00000392185.2:p.Ser2173Cys
ENST00000481328.7:n.5187A>T
ENST00000605744.1:n.2151A>T
NM_000260.3:c.6637A>T	NP_000251.3:p.Ser2213Cys
NM_001127180.1:c.6517A>T	NP_001120652.1:p.Ser2173Cys
XM_005274012.2:c.6520A>T	XP_005274069.1:p.Ser2174Cys
XM_006718561.2:c.6523A>T	XP_006718624.1:p.Ser2175Cys
XR_949941.1:n.6931A>T
XM_017017780.1:c.6727A>T	XP_016873269.1:p.Ser2243Cys
XM_017017784.1:c.6610A>T	XP_016873273.1:p.Ser2204Cys
XM_017017788.1:c.6613A>T	XP_016873277.1:p.Ser2205Cys
XR_001747885.1:n.6716A>T
XR_001747887.1:n.6702A>T
NM_000260.4:c.6637A>T MANE Select	NP_000251.3:p.Ser2213Cys
NM_001127180.2:c.6517A>T	NP_001120652.1:p.Ser2173Cys
NM_001369365.1:c.6490A>T	NP_001356294.1:p.Ser2164Cys