Canonical Allele Identifier: CA381935588

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 2635215
• ClinVar RCV Id: RCV004534234
• gnomAD v4: 11-77211182-A-T
• MyVariant Identifiers: chr11:g.76922227A>T (hg19) ; chr11:g.77211182A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211182A>T , CM000673.2:g.77211182A>T	GRCh38
NC_000011.9:g.76922227A>T , CM000673.1:g.76922227A>T	GRCh37
NC_000011.8:g.76599875A>T	NCBI36
NG_009086.1:g.87918A>T
NG_009086.2:g.87937A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6082A>T MANE Select	ENSP00000386331.3:p.Lys2028Ter
ENST00000670577.1:c.3883A>T
ENST00000409619.6:c.5935A>T	ENSP00000386635.2:p.Lys1979Ter
ENST00000409709.7:c.6082A>T	ENSP00000386331.3:p.Lys2028Ter
ENST00000458169.2:c.3508A>T	ENSP00000417017.2:p.Lys1170Ter
ENST00000458637.6:c.5968A>T	ENSP00000392185.2:p.Lys1990Ter
ENST00000481328.7:n.3618A>T
ENST00000526863.2:n.25+271A>T
ENST00000605744.1:n.1549A>T
NM_000260.3:c.6082A>T	NP_000251.3:p.Lys2028Ter
NM_001127180.1:c.5968A>T	NP_001120652.1:p.Lys1990Ter
XM_005274012.2:c.5965A>T	XP_005274069.1:p.Lys1989Ter
XM_006718558.2:c.6073A>T	XP_006718621.1:p.Lys2025Ter
XM_006718559.2:c.5968A>T	XP_006718622.1:p.Lys1990Ter
XM_006718560.2:c.5965A>T	XP_006718623.1:p.Lys1989Ter
XM_006718561.2:c.5968A>T	XP_006718624.1:p.Lys1990Ter
XM_011545044.1:c.6082A>T	XP_011543346.1:p.Lys2028Ter
XM_011545045.1:c.6076A>T	XP_011543347.1:p.Lys2026Ter
XM_011545046.1:c.6049A>T	XP_011543348.1:p.Lys2017Ter
XM_011545047.1:c.5986A>T	XP_011543349.1:p.Lys1996Ter
XM_011545048.1:c.5857A>T	XP_011543350.1:p.Lys1953Ter
XM_011545049.1:c.5845A>T	XP_011543351.1:p.Lys1949Ter
XM_011545050.1:c.5818A>T	XP_011543352.1:p.Lys1940Ter
XM_011545051.1:c.6082A>T	XP_011543353.1:p.Lys2028Ter
XR_949938.1:n.6402A>T
XR_949941.1:n.6376A>T
XM_011545044.2:c.6082A>T	XP_011543346.1:p.Lys2028Ter
XM_011545046.2:c.6172A>T	XP_011543348.2:p.Lys2058Ter
XM_011545050.2:c.5818A>T	XP_011543352.1:p.Lys1940Ter
XM_017017778.1:c.6166A>T	XP_016873267.1:p.Lys2056Ter
XM_017017779.1:c.6163A>T	XP_016873268.1:p.Lys2055Ter
XM_017017780.1:c.6172A>T	XP_016873269.1:p.Lys2058Ter
XM_017017781.1:c.6076A>T	XP_016873270.1:p.Lys2026Ter
XM_017017782.1:c.6058A>T	XP_016873271.1:p.Lys2020Ter
XM_017017783.1:c.6055A>T	XP_016873272.1:p.Lys2019Ter
XM_017017784.1:c.6055A>T	XP_016873273.1:p.Lys2019Ter
XM_017017785.1:c.5935A>T	XP_016873274.1:p.Lys1979Ter
XM_017017786.1:c.6172A>T	XP_016873275.1:p.Lys2058Ter
XM_017017788.1:c.6058A>T	XP_016873277.1:p.Lys2020Ter
XR_001747885.1:n.6161A>T
XR_001747886.1:n.6102A>T
XR_001747887.1:n.6147A>T
NM_000260.4:c.6082A>T MANE Select	NP_000251.3:p.Lys2028Ter
NM_001127180.2:c.5968A>T	NP_001120652.1:p.Lys1990Ter
NM_001369365.1:c.5935A>T	NP_001356294.1:p.Lys1979Ter