Canonical Allele Identifier: CA2573147753

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 1482972
• ClinVar RCV Id: RCV001995909
• dbSNP Id: rs2135712153
• gnomAD v4: 11-77203050-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77203050G>A , CM000673.2:g.77203050G>A	GRCh38
NC_000011.9:g.76914095G>A , CM000673.1:g.76914095G>A	GRCh37
NC_000011.8:g.76591743G>A	NCBI36
NG_009086.1:g.79786G>A
NG_009086.2:g.79805G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.5169-10G>A MANE Select	ENSP00000386331.3:n.5169-10G>A
ENST00000670577.1:c.3010-10G>A
ENST00000409619.6:c.5022-10G>A	ENSP00000386635.2:n.5022-10G>A
ENST00000409709.7:c.5169-10G>A	ENSP00000386331.3:n.5169-10G>A
ENST00000458169.2:c.2595-10G>A	ENSP00000417017.2:n.2595-10G>A
ENST00000458637.6:c.5055-10G>A	ENSP00000392185.2:n.5055-10G>A
ENST00000481328.7:n.2705-10G>A
NM_000260.3:c.5169-10G>A	NP_000251.3:n.5169-10G>A
NM_001127180.1:c.5055-10G>A	NP_001120652.1:n.5055-10G>A
XM_005274012.2:c.5052-10G>A	XP_005274069.1:n.5052-10G>A
XM_006718558.2:c.5160-10G>A	XP_006718621.1:n.5160-10G>A
XM_006718559.2:c.5055-10G>A	XP_006718622.1:n.5055-10G>A
XM_006718560.2:c.5052-10G>A	XP_006718623.1:n.5052-10G>A
XM_006718561.2:c.5055-10G>A	XP_006718624.1:n.5055-10G>A
XM_011545044.1:c.5169-10G>A	XP_011543346.1:n.5169-10G>A
XM_011545045.1:c.5163-10G>A	XP_011543347.1:n.5163-10G>A
XM_011545046.1:c.5136-10G>A	XP_011543348.1:n.5136-10G>A
XM_011545047.1:c.5073-10G>A	XP_011543349.1:n.5073-10G>A
XM_011545048.1:c.4944-10G>A	XP_011543350.1:n.4944-10G>A
XM_011545049.1:c.4932-10G>A	XP_011543351.1:n.4932-10G>A
XM_011545050.1:c.4905-10G>A	XP_011543352.1:n.4905-10G>A
XM_011545051.1:c.5169-10G>A	XP_011543353.1:n.5169-10G>A
XM_011545052.1:c.5169-10G>A	XP_011543354.1:n.5169-10G>A
XR_949938.1:n.5489-10G>A
XR_949941.1:n.5489-10G>A
XR_949942.1:n.5491-10G>A
XM_011545044.2:c.5169-10G>A	XP_011543346.1:n.5169-10G>A
XM_011545046.2:c.5259-10G>A	XP_011543348.2:n.5259-10G>A
XM_011545050.2:c.4905-10G>A	XP_011543352.1:n.4905-10G>A
XM_017017778.1:c.5253-10G>A	XP_016873267.1:n.5253-10G>A
XM_017017779.1:c.5250-10G>A	XP_016873268.1:n.5250-10G>A
XM_017017780.1:c.5259-10G>A	XP_016873269.1:n.5259-10G>A
XM_017017781.1:c.5163-10G>A	XP_016873270.1:n.5163-10G>A
XM_017017782.1:c.5145-10G>A	XP_016873271.1:n.5145-10G>A
XM_017017783.1:c.5142-10G>A	XP_016873272.1:n.5142-10G>A
XM_017017784.1:c.5142-10G>A	XP_016873273.1:n.5142-10G>A
XM_017017785.1:c.5022-10G>A	XP_016873274.1:n.5022-10G>A
XM_017017786.1:c.5259-10G>A	XP_016873275.1:n.5259-10G>A
XM_017017788.1:c.5145-10G>A	XP_016873277.1:n.5145-10G>A
XR_001747885.1:n.5274-10G>A
XR_001747886.1:n.5274-10G>A
XR_001747887.1:n.5274-10G>A
XR_001747888.1:n.5274-10G>A
NM_000260.4:c.5169-10G>A MANE Select	NP_000251.3:n.5169-10G>A
NM_001127180.2:c.5055-10G>A	NP_001120652.1:n.5055-10G>A
NM_001369365.1:c.5022-10G>A	NP_001356294.1:n.5022-10G>A