Canonical Allele Identifier: CA381939536

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77214688-G-T
• MyVariant Identifiers: chr11:g.76925733G>T (hg19) ; chr11:g.77214688G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214688G>T , CM000673.2:g.77214688G>T	GRCh38
NC_000011.9:g.76925733G>T , CM000673.1:g.76925733G>T	GRCh37
NC_000011.8:g.76603381G>T	NCBI36
NG_009086.1:g.91424G>T
NG_009086.2:g.91443G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6640G>T MANE Select	ENSP00000386331.3:p.Gly2214Cys
ENST00000670577.1:c.4441G>T
ENST00000409619.6:c.6493G>T	ENSP00000386635.2:p.Gly2165Cys
ENST00000409709.7:c.6640G>T	ENSP00000386331.3:p.Gly2214Cys
ENST00000458169.2:c.4066G>T	ENSP00000417017.2:p.Gly1356Cys
ENST00000458637.6:c.6520G>T	ENSP00000392185.2:p.Gly2174Cys
ENST00000481328.7:n.5190G>T
ENST00000605744.1:n.2154G>T
NM_000260.3:c.6640G>T	NP_000251.3:p.Gly2214Cys
NM_001127180.1:c.6520G>T	NP_001120652.1:p.Gly2174Cys
XM_005274012.2:c.6523G>T	XP_005274069.1:p.Gly2175Cys
XM_006718561.2:c.6526G>T	XP_006718624.1:p.Gly2176Cys
XR_949941.1:n.6934G>T
XM_017017780.1:c.6730G>T	XP_016873269.1:p.Gly2244Cys
XM_017017784.1:c.6613G>T	XP_016873273.1:p.Gly2205Cys
XM_017017788.1:c.6616G>T	XP_016873277.1:p.Gly2206Cys
XR_001747885.1:n.6719G>T
XR_001747887.1:n.6705G>T
NM_000260.4:c.6640G>T MANE Select	NP_000251.3:p.Gly2214Cys
NM_001127180.2:c.6520G>T	NP_001120652.1:p.Gly2174Cys
NM_001369365.1:c.6493G>T	NP_001356294.1:p.Gly2165Cys