Canonical Allele Identifier: CA381939350

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77214653-T-C
• MyVariant Identifiers: chr11:g.76925698T>C (hg19) ; chr11:g.77214653T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214653T>C , CM000673.2:g.77214653T>C	GRCh38
NC_000011.9:g.76925698T>C , CM000673.1:g.76925698T>C	GRCh37
NC_000011.8:g.76603346T>C	NCBI36
NG_009086.1:g.91389T>C
NG_009086.2:g.91408T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6605T>C MANE Select	ENSP00000386331.3:p.Leu2202Pro
ENST00000670577.1:c.4406T>C
ENST00000409619.6:c.6458T>C	ENSP00000386635.2:p.Leu2153Pro
ENST00000409709.7:c.6605T>C	ENSP00000386331.3:p.Leu2202Pro
ENST00000458169.2:c.4031T>C	ENSP00000417017.2:p.Leu1344Pro
ENST00000458637.6:c.6485T>C	ENSP00000392185.2:p.Leu2162Pro
ENST00000481328.7:n.5155T>C
ENST00000605744.1:n.2119T>C
NM_000260.3:c.6605T>C	NP_000251.3:p.Leu2202Pro
NM_001127180.1:c.6485T>C	NP_001120652.1:p.Leu2162Pro
XM_005274012.2:c.6488T>C	XP_005274069.1:p.Leu2163Pro
XM_006718561.2:c.6491T>C	XP_006718624.1:p.Leu2164Pro
XR_949941.1:n.6899T>C
XM_017017780.1:c.6695T>C	XP_016873269.1:p.Leu2232Pro
XM_017017784.1:c.6578T>C	XP_016873273.1:p.Leu2193Pro
XM_017017788.1:c.6581T>C	XP_016873277.1:p.Leu2194Pro
XR_001747885.1:n.6684T>C
XR_001747887.1:n.6670T>C
NM_000260.4:c.6605T>C MANE Select	NP_000251.3:p.Leu2202Pro
NM_001127180.2:c.6485T>C	NP_001120652.1:p.Leu2162Pro
NM_001369365.1:c.6458T>C	NP_001356294.1:p.Leu2153Pro