Canonical Allele Identifier: CA381935495

Gene: MYO7A

Linked Data

• dbSNP Id: rs1957839063
• gnomAD v4: 11-77211164-T-C
• MyVariant Identifiers: chr11:g.76922209T>C (hg19) ; chr11:g.77211164T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211164T>C , CM000673.2:g.77211164T>C	GRCh38
NC_000011.9:g.76922209T>C , CM000673.1:g.76922209T>C	GRCh37
NC_000011.8:g.76599857T>C	NCBI36
NG_009086.1:g.87900T>C
NG_009086.2:g.87919T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6064T>C MANE Select	ENSP00000386331.3:p.Tyr2022His
ENST00000670577.1:c.3865T>C
ENST00000409619.6:c.5917T>C	ENSP00000386635.2:p.Tyr1973His
ENST00000409709.7:c.6064T>C	ENSP00000386331.3:p.Tyr2022His
ENST00000458169.2:c.3490T>C	ENSP00000417017.2:p.Tyr1164His
ENST00000458637.6:c.5950T>C	ENSP00000392185.2:p.Tyr1984His
ENST00000481328.7:n.3600T>C
ENST00000526863.2:n.25+253T>C
ENST00000605744.1:n.1531T>C
NM_000260.3:c.6064T>C	NP_000251.3:p.Tyr2022His
NM_001127180.1:c.5950T>C	NP_001120652.1:p.Tyr1984His
XM_005274012.2:c.5947T>C	XP_005274069.1:p.Tyr1983His
XM_006718558.2:c.6055T>C	XP_006718621.1:p.Tyr2019His
XM_006718559.2:c.5950T>C	XP_006718622.1:p.Tyr1984His
XM_006718560.2:c.5947T>C	XP_006718623.1:p.Tyr1983His
XM_006718561.2:c.5950T>C	XP_006718624.1:p.Tyr1984His
XM_011545044.1:c.6064T>C	XP_011543346.1:p.Tyr2022His
XM_011545045.1:c.6058T>C	XP_011543347.1:p.Tyr2020His
XM_011545046.1:c.6031T>C	XP_011543348.1:p.Tyr2011His
XM_011545047.1:c.5968T>C	XP_011543349.1:p.Tyr1990His
XM_011545048.1:c.5839T>C	XP_011543350.1:p.Tyr1947His
XM_011545049.1:c.5827T>C	XP_011543351.1:p.Tyr1943His
XM_011545050.1:c.5800T>C	XP_011543352.1:p.Tyr1934His
XM_011545051.1:c.6064T>C	XP_011543353.1:p.Tyr2022His
XR_949938.1:n.6384T>C
XR_949941.1:n.6358T>C
XM_011545044.2:c.6064T>C	XP_011543346.1:p.Tyr2022His
XM_011545046.2:c.6154T>C	XP_011543348.2:p.Tyr2052His
XM_011545050.2:c.5800T>C	XP_011543352.1:p.Tyr1934His
XM_017017778.1:c.6148T>C	XP_016873267.1:p.Tyr2050His
XM_017017779.1:c.6145T>C	XP_016873268.1:p.Tyr2049His
XM_017017780.1:c.6154T>C	XP_016873269.1:p.Tyr2052His
XM_017017781.1:c.6058T>C	XP_016873270.1:p.Tyr2020His
XM_017017782.1:c.6040T>C	XP_016873271.1:p.Tyr2014His
XM_017017783.1:c.6037T>C	XP_016873272.1:p.Tyr2013His
XM_017017784.1:c.6037T>C	XP_016873273.1:p.Tyr2013His
XM_017017785.1:c.5917T>C	XP_016873274.1:p.Tyr1973His
XM_017017786.1:c.6154T>C	XP_016873275.1:p.Tyr2052His
XM_017017788.1:c.6040T>C	XP_016873277.1:p.Tyr2014His
XR_001747885.1:n.6143T>C
XR_001747886.1:n.6084T>C
XR_001747887.1:n.6129T>C
NM_000260.4:c.6064T>C MANE Select	NP_000251.3:p.Tyr2022His
NM_001127180.2:c.5950T>C	NP_001120652.1:p.Tyr1984His
NM_001369365.1:c.5917T>C	NP_001356294.1:p.Tyr1973His