Canonical Allele Identifier: CA6198453

Gene: MYO7A

Linked Data

• dbSNP Id: rs745830152
• ExAC: 11:76909545 A / G
• gnomAD v2: 11-76909545-A-G
• gnomAD v4: 11-77198500-A-G
• MyVariant Identifiers: chr11:g.76909545A>G (hg19) ; chr11:g.77198500A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77198500A>G , CM000673.2:g.77198500A>G	GRCh38
NC_000011.9:g.76909545A>G , CM000673.1:g.76909545A>G	GRCh37
NC_000011.8:g.76587193A>G	NCBI36
NG_009086.1:g.75236A>G
NG_009086.2:g.75255A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.4447A>G MANE Select	ENSP00000386331.3:p.Ser1483Gly
ENST00000670577.1:c.2288A>G
ENST00000409619.6:c.4414A>G	ENSP00000386635.2:p.Ser1472Gly
ENST00000409709.7:c.4447A>G	ENSP00000386331.3:p.Ser1483Gly
ENST00000458169.2:c.1990A>G	ENSP00000417017.2:p.Ser664Gly
ENST00000458637.6:c.4447A>G	ENSP00000392185.2:p.Ser1483Gly
ENST00000481328.7:n.2100A>G
NM_000260.3:c.4447A>G	NP_000251.3:p.Ser1483Gly
NM_001127180.1:c.4447A>G	NP_001120652.1:p.Ser1483Gly
XM_005274012.2:c.4447A>G	XP_005274069.1:p.Ser1483Gly
XM_006718558.2:c.4555A>G	XP_006718621.1:p.Ser1519Gly
XM_006718559.2:c.4447A>G	XP_006718622.1:p.Ser1483Gly
XM_006718560.2:c.4447A>G	XP_006718623.1:p.Ser1483Gly
XM_006718561.2:c.4447A>G	XP_006718624.1:p.Ser1483Gly
XM_011545044.1:c.4447A>G	XP_011543346.1:p.Ser1483Gly
XM_011545045.1:c.4555A>G	XP_011543347.1:p.Ser1519Gly
XM_011545046.1:c.4414A>G	XP_011543348.1:p.Ser1472Gly
XM_011545047.1:c.4465A>G	XP_011543349.1:p.Ser1489Gly
XM_011545048.1:c.4336A>G	XP_011543350.1:p.Ser1446Gly
XM_011545049.1:c.4324A>G	XP_011543351.1:p.Ser1442Gly
XM_011545050.1:c.4297A>G	XP_011543352.1:p.Ser1433Gly
XM_011545051.1:c.4447A>G	XP_011543353.1:p.Ser1483Gly
XM_011545052.1:c.4447A>G	XP_011543354.1:p.Ser1483Gly
XR_949938.1:n.4767A>G
XR_949941.1:n.4767A>G
XR_949942.1:n.4769A>G
XM_011545044.2:c.4447A>G	XP_011543346.1:p.Ser1483Gly
XM_011545046.2:c.4537A>G	XP_011543348.2:p.Ser1513Gly
XM_011545050.2:c.4297A>G	XP_011543352.1:p.Ser1433Gly
XM_017017778.1:c.4645A>G	XP_016873267.1:p.Ser1549Gly
XM_017017779.1:c.4645A>G	XP_016873268.1:p.Ser1549Gly
XM_017017780.1:c.4537A>G	XP_016873269.1:p.Ser1513Gly
XM_017017781.1:c.4555A>G	XP_016873270.1:p.Ser1519Gly
XM_017017782.1:c.4537A>G	XP_016873271.1:p.Ser1513Gly
XM_017017783.1:c.4537A>G	XP_016873272.1:p.Ser1513Gly
XM_017017784.1:c.4537A>G	XP_016873273.1:p.Ser1513Gly
XM_017017785.1:c.4414A>G	XP_016873274.1:p.Ser1472Gly
XM_017017786.1:c.4537A>G	XP_016873275.1:p.Ser1513Gly
XM_017017788.1:c.4537A>G	XP_016873277.1:p.Ser1513Gly
XR_001747885.1:n.4552A>G
XR_001747886.1:n.4552A>G
XR_001747887.1:n.4552A>G
XR_001747888.1:n.4552A>G
NM_000260.4:c.4447A>G MANE Select	NP_000251.3:p.Ser1483Gly
NM_001127180.2:c.4447A>G	NP_001120652.1:p.Ser1483Gly
NM_001369365.1:c.4414A>G	NP_001356294.1:p.Ser1472Gly