Canonical Allele Identifier: CA6198905

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 1493312
• ClinVar RCV Id: RCV001984277
• dbSNP Id: rs377640847
• ExAC: 11:76919840 T / C
• gnomAD v2: 11-76919840-T-C
• gnomAD v4: 11-77208795-T-C
• MyVariant Identifiers: chr11:g.76919840T>C (hg19) ; chr11:g.77208795T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77208795T>C , CM000673.2:g.77208795T>C	GRCh38
NC_000011.9:g.76919840T>C , CM000673.1:g.76919840T>C	GRCh37
NC_000011.8:g.76597488T>C	NCBI36
NG_009086.1:g.85531T>C
NG_009086.2:g.85550T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.6043T>C MANE Select	ENSP00000386331.3:p.Tyr2015His
ENST00000670577.1:c.3844T>C
ENST00000409619.6:c.5896T>C	ENSP00000386635.2:p.Tyr1966His
ENST00000409709.7:c.6043T>C	ENSP00000386331.3:p.Tyr2015His
ENST00000458169.2:c.3469T>C	ENSP00000417017.2:p.Tyr1157His
ENST00000458637.6:c.5929T>C	ENSP00000392185.2:p.Tyr1977His
ENST00000481328.7:n.3579T>C
ENST00000605744.1:n.957T>C
NM_000260.3:c.6043T>C	NP_000251.3:p.Tyr2015His
NM_001127180.1:c.5929T>C	NP_001120652.1:p.Tyr1977His
XM_005274012.2:c.5926T>C	XP_005274069.1:p.Tyr1976His
XM_006718558.2:c.6034T>C	XP_006718621.1:p.Tyr2012His
XM_006718559.2:c.5929T>C	XP_006718622.1:p.Tyr1977His
XM_006718560.2:c.5926T>C	XP_006718623.1:p.Tyr1976His
XM_006718561.2:c.5929T>C	XP_006718624.1:p.Tyr1977His
XM_011545044.1:c.6043T>C	XP_011543346.1:p.Tyr2015His
XM_011545045.1:c.6037T>C	XP_011543347.1:p.Tyr2013His
XM_011545046.1:c.6010T>C	XP_011543348.1:p.Tyr2004His
XM_011545047.1:c.5947T>C	XP_011543349.1:p.Tyr1983His
XM_011545048.1:c.5818T>C	XP_011543350.1:p.Tyr1940His
XM_011545049.1:c.5806T>C	XP_011543351.1:p.Tyr1936His
XM_011545050.1:c.5779T>C	XP_011543352.1:p.Tyr1927His
XM_011545051.1:c.6043T>C	XP_011543353.1:p.Tyr2015His
XR_949938.1:n.6363T>C
XR_949941.1:n.6337T>C
XM_011545044.2:c.6043T>C	XP_011543346.1:p.Tyr2015His
XM_011545046.2:c.6133T>C	XP_011543348.2:p.Tyr2045His
XM_011545050.2:c.5779T>C	XP_011543352.1:p.Tyr1927His
XM_017017778.1:c.6127T>C	XP_016873267.1:p.Tyr2043His
XM_017017779.1:c.6124T>C	XP_016873268.1:p.Tyr2042His
XM_017017780.1:c.6133T>C	XP_016873269.1:p.Tyr2045His
XM_017017781.1:c.6037T>C	XP_016873270.1:p.Tyr2013His
XM_017017782.1:c.6019T>C	XP_016873271.1:p.Tyr2007His
XM_017017783.1:c.6016T>C	XP_016873272.1:p.Tyr2006His
XM_017017784.1:c.6016T>C	XP_016873273.1:p.Tyr2006His
XM_017017785.1:c.5896T>C	XP_016873274.1:p.Tyr1966His
XM_017017786.1:c.6133T>C	XP_016873275.1:p.Tyr2045His
XM_017017788.1:c.6019T>C	XP_016873277.1:p.Tyr2007His
XR_001747885.1:n.6122T>C
XR_001747886.1:n.6063T>C
XR_001747887.1:n.6108T>C
NM_000260.4:c.6043T>C MANE Select	NP_000251.3:p.Tyr2015His
NM_001127180.2:c.5929T>C	NP_001120652.1:p.Tyr1977His
NM_001369365.1:c.5896T>C	NP_001356294.1:p.Tyr1966His