Canonical Allele Identifier: CA381939512

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77214684-G-T
• MyVariant Identifiers: chr11:g.76925729G>T (hg19) ; chr11:g.77214684G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214684G>T , CM000673.2:g.77214684G>T	GRCh38
NC_000011.9:g.76925729G>T , CM000673.1:g.76925729G>T	GRCh37
NC_000011.8:g.76603377G>T	NCBI36
NG_009086.1:g.91420G>T
NG_009086.2:g.91439G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6636G>T MANE Select	ENSP00000386331.3:p.Arg2212Ser
ENST00000670577.1:c.4437G>T
ENST00000409619.6:c.6489G>T	ENSP00000386635.2:p.Arg2163Ser
ENST00000409709.7:c.6636G>T	ENSP00000386331.3:p.Arg2212Ser
ENST00000458169.2:c.4062G>T	ENSP00000417017.2:p.Arg1354Ser
ENST00000458637.6:c.6516G>T	ENSP00000392185.2:p.Arg2172Ser
ENST00000481328.7:n.5186G>T
ENST00000605744.1:n.2150G>T
NM_000260.3:c.6636G>T	NP_000251.3:p.Arg2212Ser
NM_001127180.1:c.6516G>T	NP_001120652.1:p.Arg2172Ser
XM_005274012.2:c.6519G>T	XP_005274069.1:p.Arg2173Ser
XM_006718561.2:c.6522G>T	XP_006718624.1:p.Arg2174Ser
XR_949941.1:n.6930G>T
XM_017017780.1:c.6726G>T	XP_016873269.1:p.Arg2242Ser
XM_017017784.1:c.6609G>T	XP_016873273.1:p.Arg2203Ser
XM_017017788.1:c.6612G>T	XP_016873277.1:p.Arg2204Ser
XR_001747885.1:n.6715G>T
XR_001747887.1:n.6701G>T
NM_000260.4:c.6636G>T MANE Select	NP_000251.3:p.Arg2212Ser
NM_001127180.2:c.6516G>T	NP_001120652.1:p.Arg2172Ser
NM_001369365.1:c.6489G>T	NP_001356294.1:p.Arg2163Ser