Canonical Allele Identifier: CA381950856

Gene: MYO7A

Linked Data

• dbSNP Id: rs1346469022
• gnomAD v2: 11-76910762-C-T
• gnomAD v3: 11-77199717-C-T
• gnomAD v4: 11-77199717-C-T
• MyVariant Identifiers: chr11:g.76910762C>T (hg19) ; chr11:g.77199717C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77199717C>T , CM000673.2:g.77199717C>T	GRCh38
NC_000011.9:g.76910762C>T , CM000673.1:g.76910762C>T	GRCh37
NC_000011.8:g.76588410C>T	NCBI36
NG_009086.1:g.76453C>T
NG_009086.2:g.76472C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.4751C>T MANE Select	ENSP00000386331.3:p.Ser1584Phe
ENST00000670577.1:c.2592C>T
ENST00000409619.6:c.4604C>T	ENSP00000386635.2:p.Ser1535Phe
ENST00000409709.7:c.4751C>T	ENSP00000386331.3:p.Ser1584Phe
ENST00000458169.2:c.2180C>T	ENSP00000417017.2:p.Ser727Phe
ENST00000458637.6:c.4637C>T	ENSP00000392185.2:p.Ser1546Phe
ENST00000481328.7:n.2290C>T
NM_000260.3:c.4751C>T	NP_000251.3:p.Ser1584Phe
NM_001127180.1:c.4637C>T	NP_001120652.1:p.Ser1546Phe
XM_005274012.2:c.4637C>T	XP_005274069.1:p.Ser1546Phe
XM_006718558.2:c.4745C>T	XP_006718621.1:p.Ser1582Phe
XM_006718559.2:c.4637C>T	XP_006718622.1:p.Ser1546Phe
XM_006718560.2:c.4637C>T	XP_006718623.1:p.Ser1546Phe
XM_006718561.2:c.4637C>T	XP_006718624.1:p.Ser1546Phe
XM_011545044.1:c.4751C>T	XP_011543346.1:p.Ser1584Phe
XM_011545045.1:c.4745C>T	XP_011543347.1:p.Ser1582Phe
XM_011545046.1:c.4718C>T	XP_011543348.1:p.Ser1573Phe
XM_011545047.1:c.4655C>T	XP_011543349.1:p.Ser1552Phe
XM_011545048.1:c.4526C>T	XP_011543350.1:p.Ser1509Phe
XM_011545049.1:c.4514C>T	XP_011543351.1:p.Ser1505Phe
XM_011545050.1:c.4487C>T	XP_011543352.1:p.Ser1496Phe
XM_011545051.1:c.4751C>T	XP_011543353.1:p.Ser1584Phe
XM_011545052.1:c.4751C>T	XP_011543354.1:p.Ser1584Phe
XR_949938.1:n.5071C>T
XR_949941.1:n.5071C>T
XR_949942.1:n.5073C>T
XM_011545044.2:c.4751C>T	XP_011543346.1:p.Ser1584Phe
XM_011545046.2:c.4841C>T	XP_011543348.2:p.Ser1614Phe
XM_011545050.2:c.4487C>T	XP_011543352.1:p.Ser1496Phe
XM_017017778.1:c.4835C>T	XP_016873267.1:p.Ser1612Phe
XM_017017779.1:c.4835C>T	XP_016873268.1:p.Ser1612Phe
XM_017017780.1:c.4841C>T	XP_016873269.1:p.Ser1614Phe
XM_017017781.1:c.4745C>T	XP_016873270.1:p.Ser1582Phe
XM_017017782.1:c.4727C>T	XP_016873271.1:p.Ser1576Phe
XM_017017783.1:c.4727C>T	XP_016873272.1:p.Ser1576Phe
XM_017017784.1:c.4727C>T	XP_016873273.1:p.Ser1576Phe
XM_017017785.1:c.4604C>T	XP_016873274.1:p.Ser1535Phe
XM_017017786.1:c.4841C>T	XP_016873275.1:p.Ser1614Phe
XM_017017788.1:c.4727C>T	XP_016873277.1:p.Ser1576Phe
XR_001747885.1:n.4856C>T
XR_001747886.1:n.4856C>T
XR_001747887.1:n.4856C>T
XR_001747888.1:n.4856C>T
NM_000260.4:c.4751C>T MANE Select	NP_000251.3:p.Ser1584Phe
NM_001127180.2:c.4637C>T	NP_001120652.1:p.Ser1546Phe
NM_001369365.1:c.4604C>T	NP_001356294.1:p.Ser1535Phe