Canonical Allele Identifier: CA381954058

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 1040082
• ClinVar RCV Id: RCV001343666 ; RCV001831100
• dbSNP Id: rs1957516566
• gnomAD v4: 11-77207355-C-T
• MyVariant Identifiers: chr11:g.76918400C>T (hg19) ; chr11:g.77207355C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77207355C>T , CM000673.2:g.77207355C>T	GRCh38
NC_000011.9:g.76918400C>T , CM000673.1:g.76918400C>T	GRCh37
NC_000011.8:g.76596048C>T	NCBI36
NG_009086.1:g.84091C>T
NG_009086.2:g.84110C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.5809C>T MANE Select	ENSP00000386331.3:p.Leu1937Phe
ENST00000670577.1:c.3636C>T
ENST00000409619.6:c.5662C>T	ENSP00000386635.2:p.Leu1888Phe
ENST00000409709.7:c.5809C>T	ENSP00000386331.3:p.Leu1937Phe
ENST00000458169.2:c.3235C>T	ENSP00000417017.2:p.Leu1079Phe
ENST00000458637.6:c.5695C>T	ENSP00000392185.2:p.Leu1899Phe
ENST00000481328.7:n.3345C>T
ENST00000605744.1:n.723C>T
NM_000260.3:c.5809C>T	NP_000251.3:p.Leu1937Phe
NM_001127180.1:c.5695C>T	NP_001120652.1:p.Leu1899Phe
XM_005274012.2:c.5692C>T	XP_005274069.1:p.Leu1898Phe
XM_006718558.2:c.5800C>T	XP_006718621.1:p.Leu1934Phe
XM_006718559.2:c.5695C>T	XP_006718622.1:p.Leu1899Phe
XM_006718560.2:c.5692C>T	XP_006718623.1:p.Leu1898Phe
XM_006718561.2:c.5695C>T	XP_006718624.1:p.Leu1899Phe
XM_011545044.1:c.5809C>T	XP_011543346.1:p.Leu1937Phe
XM_011545045.1:c.5803C>T	XP_011543347.1:p.Leu1935Phe
XM_011545046.1:c.5776C>T	XP_011543348.1:p.Leu1926Phe
XM_011545047.1:c.5713C>T	XP_011543349.1:p.Leu1905Phe
XM_011545048.1:c.5584C>T	XP_011543350.1:p.Leu1862Phe
XM_011545049.1:c.5572C>T	XP_011543351.1:p.Leu1858Phe
XM_011545050.1:c.5545C>T	XP_011543352.1:p.Leu1849Phe
XM_011545051.1:c.5809C>T	XP_011543353.1:p.Leu1937Phe
XR_949938.1:n.6129C>T
XR_949941.1:n.6129C>T
XM_011545044.2:c.5809C>T	XP_011543346.1:p.Leu1937Phe
XM_011545046.2:c.5899C>T	XP_011543348.2:p.Leu1967Phe
XM_011545050.2:c.5545C>T	XP_011543352.1:p.Leu1849Phe
XM_017017778.1:c.5893C>T	XP_016873267.1:p.Leu1965Phe
XM_017017779.1:c.5890C>T	XP_016873268.1:p.Leu1964Phe
XM_017017780.1:c.5899C>T	XP_016873269.1:p.Leu1967Phe
XM_017017781.1:c.5803C>T	XP_016873270.1:p.Leu1935Phe
XM_017017782.1:c.5785C>T	XP_016873271.1:p.Leu1929Phe
XM_017017783.1:c.5782C>T	XP_016873272.1:p.Leu1928Phe
XM_017017784.1:c.5782C>T	XP_016873273.1:p.Leu1928Phe
XM_017017785.1:c.5662C>T	XP_016873274.1:p.Leu1888Phe
XM_017017786.1:c.5899C>T	XP_016873275.1:p.Leu1967Phe
XM_017017788.1:c.5785C>T	XP_016873277.1:p.Leu1929Phe
XR_001747885.1:n.5914C>T
XR_001747886.1:n.5829C>T
XR_001747887.1:n.5900C>T
NM_000260.4:c.5809C>T MANE Select	NP_000251.3:p.Leu1937Phe
NM_001127180.2:c.5695C>T	NP_001120652.1:p.Leu1899Phe
NM_001369365.1:c.5662C>T	NP_001356294.1:p.Leu1888Phe