Canonical Allele Identifier: CA381950777

Gene: MYO7A

Linked Data

• MyVariant Identifiers: chr11:g.76910723C>G (hg19) ; chr11:g.77199678C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77199678C>G , CM000673.2:g.77199678C>G	GRCh38
NC_000011.9:g.76910723C>G , CM000673.1:g.76910723C>G	GRCh37
NC_000011.8:g.76588371C>G	NCBI36
NG_009086.1:g.76414C>G
NG_009086.2:g.76433C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.4712C>G MANE Select	ENSP00000386331.3:p.Thr1571Arg
ENST00000670577.1:c.2553C>G
ENST00000409619.6:c.4565C>G	ENSP00000386635.2:p.Thr1522Arg
ENST00000409709.7:c.4712C>G	ENSP00000386331.3:p.Thr1571Arg
ENST00000458169.2:c.2141C>G	ENSP00000417017.2:p.Thr714Arg
ENST00000458637.6:c.4598C>G	ENSP00000392185.2:p.Thr1533Arg
ENST00000481328.7:n.2251C>G
NM_000260.3:c.4712C>G	NP_000251.3:p.Thr1571Arg
NM_001127180.1:c.4598C>G	NP_001120652.1:p.Thr1533Arg
XM_005274012.2:c.4598C>G	XP_005274069.1:p.Thr1533Arg
XM_006718558.2:c.4706C>G	XP_006718621.1:p.Thr1569Arg
XM_006718559.2:c.4598C>G	XP_006718622.1:p.Thr1533Arg
XM_006718560.2:c.4598C>G	XP_006718623.1:p.Thr1533Arg
XM_006718561.2:c.4598C>G	XP_006718624.1:p.Thr1533Arg
XM_011545044.1:c.4712C>G	XP_011543346.1:p.Thr1571Arg
XM_011545045.1:c.4706C>G	XP_011543347.1:p.Thr1569Arg
XM_011545046.1:c.4679C>G	XP_011543348.1:p.Thr1560Arg
XM_011545047.1:c.4616C>G	XP_011543349.1:p.Thr1539Arg
XM_011545048.1:c.4487C>G	XP_011543350.1:p.Thr1496Arg
XM_011545049.1:c.4475C>G	XP_011543351.1:p.Thr1492Arg
XM_011545050.1:c.4448C>G	XP_011543352.1:p.Thr1483Arg
XM_011545051.1:c.4712C>G	XP_011543353.1:p.Thr1571Arg
XM_011545052.1:c.4712C>G	XP_011543354.1:p.Thr1571Arg
XR_949938.1:n.5032C>G
XR_949941.1:n.5032C>G
XR_949942.1:n.5034C>G
XM_011545044.2:c.4712C>G	XP_011543346.1:p.Thr1571Arg
XM_011545046.2:c.4802C>G	XP_011543348.2:p.Thr1601Arg
XM_011545050.2:c.4448C>G	XP_011543352.1:p.Thr1483Arg
XM_017017778.1:c.4796C>G	XP_016873267.1:p.Thr1599Arg
XM_017017779.1:c.4796C>G	XP_016873268.1:p.Thr1599Arg
XM_017017780.1:c.4802C>G	XP_016873269.1:p.Thr1601Arg
XM_017017781.1:c.4706C>G	XP_016873270.1:p.Thr1569Arg
XM_017017782.1:c.4688C>G	XP_016873271.1:p.Thr1563Arg
XM_017017783.1:c.4688C>G	XP_016873272.1:p.Thr1563Arg
XM_017017784.1:c.4688C>G	XP_016873273.1:p.Thr1563Arg
XM_017017785.1:c.4565C>G	XP_016873274.1:p.Thr1522Arg
XM_017017786.1:c.4802C>G	XP_016873275.1:p.Thr1601Arg
XM_017017788.1:c.4688C>G	XP_016873277.1:p.Thr1563Arg
XR_001747885.1:n.4817C>G
XR_001747886.1:n.4817C>G
XR_001747887.1:n.4817C>G
XR_001747888.1:n.4817C>G
NM_000260.4:c.4712C>G MANE Select	NP_000251.3:p.Thr1571Arg
NM_001127180.2:c.4598C>G	NP_001120652.1:p.Thr1533Arg
NM_001369365.1:c.4565C>G	NP_001356294.1:p.Thr1522Arg