Canonical Allele Identifier: CA381935788

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 1345814
• ClinVar RCV Id: RCV002049945
• dbSNP Id: rs1957843425
• MyVariant Identifiers: chr11:g.76922260G>T (hg19) ; chr11:g.77211215G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211215G>T , CM000673.2:g.77211215G>T	GRCh38
NC_000011.9:g.76922260G>T , CM000673.1:g.76922260G>T	GRCh37
NC_000011.8:g.76599908G>T	NCBI36
NG_009086.1:g.87951G>T
NG_009086.2:g.87970G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.6115G>T MANE Select	ENSP00000386331.3:p.Ala2039Ser
ENST00000670577.1:c.3916G>T
ENST00000409619.6:c.5968G>T	ENSP00000386635.2:p.Ala1990Ser
ENST00000409709.7:c.6115G>T	ENSP00000386331.3:p.Ala2039Ser
ENST00000458169.2:c.3541G>T	ENSP00000417017.2:p.Ala1181Ser
ENST00000458637.6:c.6001G>T	ENSP00000392185.2:p.Ala2001Ser
ENST00000481328.7:n.3651G>T
ENST00000526863.2:n.25+304G>T
ENST00000605744.1:n.1582G>T
NM_000260.3:c.6115G>T	NP_000251.3:p.Ala2039Ser
NM_001127180.1:c.6001G>T	NP_001120652.1:p.Ala2001Ser
XM_005274012.2:c.5998G>T	XP_005274069.1:p.Ala2000Ser
XM_006718558.2:c.6106G>T	XP_006718621.1:p.Ala2036Ser
XM_006718559.2:c.6001G>T	XP_006718622.1:p.Ala2001Ser
XM_006718560.2:c.5998G>T	XP_006718623.1:p.Ala2000Ser
XM_006718561.2:c.6001G>T	XP_006718624.1:p.Ala2001Ser
XM_011545044.1:c.6115G>T	XP_011543346.1:p.Ala2039Ser
XM_011545045.1:c.6109G>T	XP_011543347.1:p.Ala2037Ser
XM_011545046.1:c.6082G>T	XP_011543348.1:p.Ala2028Ser
XM_011545047.1:c.6019G>T	XP_011543349.1:p.Ala2007Ser
XM_011545048.1:c.5890G>T	XP_011543350.1:p.Ala1964Ser
XM_011545049.1:c.5878G>T	XP_011543351.1:p.Ala1960Ser
XM_011545050.1:c.5851G>T	XP_011543352.1:p.Ala1951Ser
XM_011545051.1:c.6115G>T	XP_011543353.1:p.Ala2039Ser
XR_949938.1:n.6435G>T
XR_949941.1:n.6409G>T
XM_011545044.2:c.6115G>T	XP_011543346.1:p.Ala2039Ser
XM_011545046.2:c.6205G>T	XP_011543348.2:p.Ala2069Ser
XM_011545050.2:c.5851G>T	XP_011543352.1:p.Ala1951Ser
XM_017017778.1:c.6199G>T	XP_016873267.1:p.Ala2067Ser
XM_017017779.1:c.6196G>T	XP_016873268.1:p.Ala2066Ser
XM_017017780.1:c.6205G>T	XP_016873269.1:p.Ala2069Ser
XM_017017781.1:c.6109G>T	XP_016873270.1:p.Ala2037Ser
XM_017017782.1:c.6091G>T	XP_016873271.1:p.Ala2031Ser
XM_017017783.1:c.6088G>T	XP_016873272.1:p.Ala2030Ser
XM_017017784.1:c.6088G>T	XP_016873273.1:p.Ala2030Ser
XM_017017785.1:c.5968G>T	XP_016873274.1:p.Ala1990Ser
XM_017017786.1:c.6205G>T	XP_016873275.1:p.Ala2069Ser
XM_017017788.1:c.6091G>T	XP_016873277.1:p.Ala2031Ser
XR_001747885.1:n.6194G>T
XR_001747886.1:n.6135G>T
XR_001747887.1:n.6180G>T
NM_000260.4:c.6115G>T MANE Select	NP_000251.3:p.Ala2039Ser
NM_001127180.2:c.6001G>T	NP_001120652.1:p.Ala2001Ser
NM_001369365.1:c.5968G>T	NP_001356294.1:p.Ala1990Ser