Canonical Allele Identifier: CA475796368

Gene: MYO7A

Linked Data

• dbSNP Id: rs1476470087
• gnomAD v2: 11-76909550-C-G
• gnomAD v4: 11-77198505-C-G
• MyVariant Identifiers: chr11:g.76909550C>G (hg19) ; chr11:g.77198505C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77198505C>G , CM000673.2:g.77198505C>G	GRCh38
NC_000011.9:g.76909550C>G , CM000673.1:g.76909550C>G	GRCh37
NC_000011.8:g.76587198C>G	NCBI36
NG_009086.1:g.75241C>G
NG_009086.2:g.75260C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.4452C>G MANE Select	ENSP00000386331.3:p.Leu1484=
ENST00000670577.1:c.2293C>G
ENST00000409619.6:c.4419C>G	ENSP00000386635.2:p.Leu1473=
ENST00000409709.7:c.4452C>G	ENSP00000386331.3:p.Leu1484=
ENST00000458169.2:c.1995C>G	ENSP00000417017.2:p.Leu665=
ENST00000458637.6:c.4452C>G	ENSP00000392185.2:p.Leu1484=
ENST00000481328.7:n.2105C>G
NM_000260.3:c.4452C>G	NP_000251.3:p.Leu1484=
NM_001127180.1:c.4452C>G	NP_001120652.1:p.Leu1484=
XM_005274012.2:c.4452C>G	XP_005274069.1:p.Leu1484=
XM_006718558.2:c.4560C>G	XP_006718621.1:p.Leu1520=
XM_006718559.2:c.4452C>G	XP_006718622.1:p.Leu1484=
XM_006718560.2:c.4452C>G	XP_006718623.1:p.Leu1484=
XM_006718561.2:c.4452C>G	XP_006718624.1:p.Leu1484=
XM_011545044.1:c.4452C>G	XP_011543346.1:p.Leu1484=
XM_011545045.1:c.4560C>G	XP_011543347.1:p.Leu1520=
XM_011545046.1:c.4419C>G	XP_011543348.1:p.Leu1473=
XM_011545047.1:c.4470C>G	XP_011543349.1:p.Leu1490=
XM_011545048.1:c.4341C>G	XP_011543350.1:p.Leu1447=
XM_011545049.1:c.4329C>G	XP_011543351.1:p.Leu1443=
XM_011545050.1:c.4302C>G	XP_011543352.1:p.Leu1434=
XM_011545051.1:c.4452C>G	XP_011543353.1:p.Leu1484=
XM_011545052.1:c.4452C>G	XP_011543354.1:p.Leu1484=
XR_949938.1:n.4772C>G
XR_949941.1:n.4772C>G
XR_949942.1:n.4774C>G
XM_011545044.2:c.4452C>G	XP_011543346.1:p.Leu1484=
XM_011545046.2:c.4542C>G	XP_011543348.2:p.Leu1514=
XM_011545050.2:c.4302C>G	XP_011543352.1:p.Leu1434=
XM_017017778.1:c.4650C>G	XP_016873267.1:p.Leu1550=
XM_017017779.1:c.4650C>G	XP_016873268.1:p.Leu1550=
XM_017017780.1:c.4542C>G	XP_016873269.1:p.Leu1514=
XM_017017781.1:c.4560C>G	XP_016873270.1:p.Leu1520=
XM_017017782.1:c.4542C>G	XP_016873271.1:p.Leu1514=
XM_017017783.1:c.4542C>G	XP_016873272.1:p.Leu1514=
XM_017017784.1:c.4542C>G	XP_016873273.1:p.Leu1514=
XM_017017785.1:c.4419C>G	XP_016873274.1:p.Leu1473=
XM_017017786.1:c.4542C>G	XP_016873275.1:p.Leu1514=
XM_017017788.1:c.4542C>G	XP_016873277.1:p.Leu1514=
XR_001747885.1:n.4557C>G
XR_001747886.1:n.4557C>G
XR_001747887.1:n.4557C>G
XR_001747888.1:n.4557C>G
NM_000260.4:c.4452C>G MANE Select	NP_000251.3:p.Leu1484=
NM_001127180.2:c.4452C>G	NP_001120652.1:p.Leu1484=
NM_001369365.1:c.4419C>G	NP_001356294.1:p.Leu1473=