Canonical Allele Identifier: CA381935782

Gene: MYO7A

Linked Data

• dbSNP Id: rs1957843425
• gnomAD v4: 11-77211215-G-A
• MyVariant Identifiers: chr11:g.76922260G>A (hg19) ; chr11:g.77211215G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.6115G>A MANE Select	ENSP00000386331.3:p.Ala2039Thr
ENST00000670577.1:c.3916G>A
ENST00000409619.6:c.5968G>A	ENSP00000386635.2:p.Ala1990Thr
ENST00000409709.7:c.6115G>A	ENSP00000386331.3:p.Ala2039Thr
ENST00000458169.2:c.3541G>A	ENSP00000417017.2:p.Ala1181Thr
ENST00000458637.6:c.6001G>A	ENSP00000392185.2:p.Ala2001Thr
ENST00000481328.7:n.3651G>A
ENST00000526863.2:n.25+304G>A
ENST00000605744.1:n.1582G>A
NM_000260.3:c.6115G>A	NP_000251.3:p.Ala2039Thr
NM_001127180.1:c.6001G>A	NP_001120652.1:p.Ala2001Thr
XM_005274012.2:c.5998G>A	XP_005274069.1:p.Ala2000Thr
XM_006718558.2:c.6106G>A	XP_006718621.1:p.Ala2036Thr
XM_006718559.2:c.6001G>A	XP_006718622.1:p.Ala2001Thr
XM_006718560.2:c.5998G>A	XP_006718623.1:p.Ala2000Thr
XM_006718561.2:c.6001G>A	XP_006718624.1:p.Ala2001Thr
XM_011545044.1:c.6115G>A	XP_011543346.1:p.Ala2039Thr
XM_011545045.1:c.6109G>A	XP_011543347.1:p.Ala2037Thr
XM_011545046.1:c.6082G>A	XP_011543348.1:p.Ala2028Thr
XM_011545047.1:c.6019G>A	XP_011543349.1:p.Ala2007Thr
XM_011545048.1:c.5890G>A	XP_011543350.1:p.Ala1964Thr
XM_011545049.1:c.5878G>A	XP_011543351.1:p.Ala1960Thr
XM_011545050.1:c.5851G>A	XP_011543352.1:p.Ala1951Thr
XM_011545051.1:c.6115G>A	XP_011543353.1:p.Ala2039Thr
XR_949938.1:n.6435G>A
XR_949941.1:n.6409G>A
XM_011545044.2:c.6115G>A	XP_011543346.1:p.Ala2039Thr
XM_011545046.2:c.6205G>A	XP_011543348.2:p.Ala2069Thr
XM_011545050.2:c.5851G>A	XP_011543352.1:p.Ala1951Thr
XM_017017778.1:c.6199G>A	XP_016873267.1:p.Ala2067Thr
XM_017017779.1:c.6196G>A	XP_016873268.1:p.Ala2066Thr
XM_017017780.1:c.6205G>A	XP_016873269.1:p.Ala2069Thr
XM_017017781.1:c.6109G>A	XP_016873270.1:p.Ala2037Thr
XM_017017782.1:c.6091G>A	XP_016873271.1:p.Ala2031Thr
XM_017017783.1:c.6088G>A	XP_016873272.1:p.Ala2030Thr
XM_017017784.1:c.6088G>A	XP_016873273.1:p.Ala2030Thr
XM_017017785.1:c.5968G>A	XP_016873274.1:p.Ala1990Thr
XM_017017786.1:c.6205G>A	XP_016873275.1:p.Ala2069Thr
XM_017017788.1:c.6091G>A	XP_016873277.1:p.Ala2031Thr
XR_001747885.1:n.6194G>A
XR_001747886.1:n.6135G>A
XR_001747887.1:n.6180G>A
NM_000260.4:c.6115G>A MANE Select	NP_000251.3:p.Ala2039Thr
NM_001127180.2:c.6001G>A	NP_001120652.1:p.Ala2001Thr
NM_001369365.1:c.5968G>A	NP_001356294.1:p.Ala1990Thr