Canonical Allele Identifier: CA381932484

Gene: MYO7A

Linked Data

• dbSNP Id: rs948962
• gnomAD v2: 11-76919478-C-T
• gnomAD v4: 11-77208433-C-T
• MyVariant Identifiers: chr11:g.76919478C>T (hg19) ; chr11:g.77208433C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77208433C>T , CM000673.2:g.77208433C>T	GRCh38
NC_000011.9:g.76919478C>T , CM000673.1:g.76919478C>T	GRCh37
NC_000011.8:g.76597126C>T	NCBI36
NG_009086.1:g.85169C>T
NG_009086.2:g.85188C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.5860C>T MANE Select	ENSP00000386331.3:p.Leu1954Phe
ENST00000670577.1:c.3687C>T
ENST00000409619.6:c.5713C>T	ENSP00000386635.2:p.Leu1905Phe
ENST00000409709.7:c.5860C>T	ENSP00000386331.3:p.Leu1954Phe
ENST00000458169.2:c.3286C>T	ENSP00000417017.2:p.Leu1096Phe
ENST00000458637.6:c.5746C>T	ENSP00000392185.2:p.Leu1916Phe
ENST00000481328.7:n.3396C>T
ENST00000605744.1:n.774C>T
NM_000260.3:c.5860C>T	NP_000251.3:p.Leu1954Phe
NM_001127180.1:c.5746C>T	NP_001120652.1:p.Leu1916Phe
XM_005274012.2:c.5743C>T	XP_005274069.1:p.Leu1915Phe
XM_006718558.2:c.5851C>T	XP_006718621.1:p.Leu1951Phe
XM_006718559.2:c.5746C>T	XP_006718622.1:p.Leu1916Phe
XM_006718560.2:c.5743C>T	XP_006718623.1:p.Leu1915Phe
XM_006718561.2:c.5746C>T	XP_006718624.1:p.Leu1916Phe
XM_011545044.1:c.5860C>T	XP_011543346.1:p.Leu1954Phe
XM_011545045.1:c.5854C>T	XP_011543347.1:p.Leu1952Phe
XM_011545046.1:c.5827C>T	XP_011543348.1:p.Leu1943Phe
XM_011545047.1:c.5764C>T	XP_011543349.1:p.Leu1922Phe
XM_011545048.1:c.5635C>T	XP_011543350.1:p.Leu1879Phe
XM_011545049.1:c.5623C>T	XP_011543351.1:p.Leu1875Phe
XM_011545050.1:c.5596C>T	XP_011543352.1:p.Leu1866Phe
XM_011545051.1:c.5860C>T	XP_011543353.1:p.Leu1954Phe
XR_949938.1:n.6180C>T
XR_949941.1:n.6180C>T
XM_011545044.2:c.5860C>T	XP_011543346.1:p.Leu1954Phe
XM_011545046.2:c.5950C>T	XP_011543348.2:p.Leu1984Phe
XM_011545050.2:c.5596C>T	XP_011543352.1:p.Leu1866Phe
XM_017017778.1:c.5944C>T	XP_016873267.1:p.Leu1982Phe
XM_017017779.1:c.5941C>T	XP_016873268.1:p.Leu1981Phe
XM_017017780.1:c.5950C>T	XP_016873269.1:p.Leu1984Phe
XM_017017781.1:c.5854C>T	XP_016873270.1:p.Leu1952Phe
XM_017017782.1:c.5836C>T	XP_016873271.1:p.Leu1946Phe
XM_017017783.1:c.5833C>T	XP_016873272.1:p.Leu1945Phe
XM_017017784.1:c.5833C>T	XP_016873273.1:p.Leu1945Phe
XM_017017785.1:c.5713C>T	XP_016873274.1:p.Leu1905Phe
XM_017017786.1:c.5950C>T	XP_016873275.1:p.Leu1984Phe
XM_017017788.1:c.5836C>T	XP_016873277.1:p.Leu1946Phe
XR_001747885.1:n.5965C>T
XR_001747886.1:n.5880C>T
XR_001747887.1:n.5951C>T
NM_000260.4:c.5860C>T MANE Select	NP_000251.3:p.Leu1954Phe
NM_001127180.2:c.5746C>T	NP_001120652.1:p.Leu1916Phe
NM_001369365.1:c.5713C>T	NP_001356294.1:p.Leu1905Phe