Canonical Allele Identifier: CA381934061

Gene: MYO7A

Linked Data

• dbSNP Id: rs1245049756
• gnomAD v2: 11-76919754-C-T
• gnomAD v3: 11-77208709-C-T
• gnomAD v4: 11-77208709-C-T
• MyVariant Identifiers: chr11:g.76919754C>T (hg19) ; chr11:g.77208709C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77208709C>T , CM000673.2:g.77208709C>T	GRCh38
NC_000011.9:g.76919754C>T , CM000673.1:g.76919754C>T	GRCh37
NC_000011.8:g.76597402C>T	NCBI36
NG_009086.1:g.85445C>T
NG_009086.2:g.85464C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.5957C>T MANE Select	ENSP00000386331.3:p.Ser1986Leu
ENST00000670577.1:c.3772-14C>T
ENST00000409619.6:c.5810C>T	ENSP00000386635.2:p.Ser1937Leu
ENST00000409709.7:c.5957C>T	ENSP00000386331.3:p.Ser1986Leu
ENST00000458169.2:c.3383C>T	ENSP00000417017.2:p.Ser1128Leu
ENST00000458637.6:c.5843C>T	ENSP00000392185.2:p.Ser1948Leu
ENST00000481328.7:n.3493C>T
ENST00000605744.1:n.871C>T
NM_000260.3:c.5957C>T	NP_000251.3:p.Ser1986Leu
NM_001127180.1:c.5843C>T	NP_001120652.1:p.Ser1948Leu
XM_005274012.2:c.5840C>T	XP_005274069.1:p.Ser1947Leu
XM_006718558.2:c.5948C>T	XP_006718621.1:p.Ser1983Leu
XM_006718559.2:c.5843C>T	XP_006718622.1:p.Ser1948Leu
XM_006718560.2:c.5840C>T	XP_006718623.1:p.Ser1947Leu
XM_006718561.2:c.5843C>T	XP_006718624.1:p.Ser1948Leu
XM_011545044.1:c.5957C>T	XP_011543346.1:p.Ser1986Leu
XM_011545045.1:c.5951C>T	XP_011543347.1:p.Ser1984Leu
XM_011545046.1:c.5924C>T	XP_011543348.1:p.Ser1975Leu
XM_011545047.1:c.5861C>T	XP_011543349.1:p.Ser1954Leu
XM_011545048.1:c.5732C>T	XP_011543350.1:p.Ser1911Leu
XM_011545049.1:c.5720C>T	XP_011543351.1:p.Ser1907Leu
XM_011545050.1:c.5693C>T	XP_011543352.1:p.Ser1898Leu
XM_011545051.1:c.5957C>T	XP_011543353.1:p.Ser1986Leu
XR_949938.1:n.6277C>T
XR_949941.1:n.6265-14C>T
XM_011545044.2:c.5957C>T	XP_011543346.1:p.Ser1986Leu
XM_011545046.2:c.6047C>T	XP_011543348.2:p.Ser2016Leu
XM_011545050.2:c.5693C>T	XP_011543352.1:p.Ser1898Leu
XM_017017778.1:c.6041C>T	XP_016873267.1:p.Ser2014Leu
XM_017017779.1:c.6038C>T	XP_016873268.1:p.Ser2013Leu
XM_017017780.1:c.6047C>T	XP_016873269.1:p.Ser2016Leu
XM_017017781.1:c.5951C>T	XP_016873270.1:p.Ser1984Leu
XM_017017782.1:c.5933C>T	XP_016873271.1:p.Ser1978Leu
XM_017017783.1:c.5930C>T	XP_016873272.1:p.Ser1977Leu
XM_017017784.1:c.5930C>T	XP_016873273.1:p.Ser1977Leu
XM_017017785.1:c.5810C>T	XP_016873274.1:p.Ser1937Leu
XM_017017786.1:c.6047C>T	XP_016873275.1:p.Ser2016Leu
XM_017017788.1:c.5933C>T	XP_016873277.1:p.Ser1978Leu
XR_001747885.1:n.6050-14C>T
XR_001747886.1:n.5977C>T
XR_001747887.1:n.6036-14C>T
NM_000260.4:c.5957C>T MANE Select	NP_000251.3:p.Ser1986Leu
NM_001127180.2:c.5843C>T	NP_001120652.1:p.Ser1948Leu
NM_001369365.1:c.5810C>T	NP_001356294.1:p.Ser1937Leu