Canonical Allele Identifier: CA381947131

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77190033-T-C
• MyVariant Identifiers: chr11:g.76901078T>C (hg19) ; chr11:g.77190033T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77190033T>C , CM000673.2:g.77190033T>C	GRCh38
NC_000011.9:g.76901078T>C , CM000673.1:g.76901078T>C	GRCh37
NC_000011.8:g.76578726T>C	NCBI36
NG_009086.1:g.66769T>C
NG_009086.2:g.66788T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.3644T>C MANE Select	ENSP00000386331.3:p.Phe1215Ser
ENST00000670577.1:c.1485T>C
ENST00000409619.6:c.3611T>C	ENSP00000386635.2:p.Phe1204Ser
ENST00000409709.7:c.3644T>C	ENSP00000386331.3:p.Phe1215Ser
ENST00000458169.2:c.1187T>C	ENSP00000417017.2:p.Phe396Ser
ENST00000458637.6:c.3644T>C	ENSP00000392185.2:p.Phe1215Ser
ENST00000467137.1:n.171T>C
ENST00000481328.7:n.1187T>C
NM_000260.3:c.3644T>C	NP_000251.3:p.Phe1215Ser
NM_001127180.1:c.3644T>C	NP_001120652.1:p.Phe1215Ser
XM_005274012.2:c.3644T>C	XP_005274069.1:p.Phe1215Ser
XM_006718558.2:c.3644T>C	XP_006718621.1:p.Phe1215Ser
XM_006718559.2:c.3644T>C	XP_006718622.1:p.Phe1215Ser
XM_006718560.2:c.3644T>C	XP_006718623.1:p.Phe1215Ser
XM_006718561.2:c.3644T>C	XP_006718624.1:p.Phe1215Ser
XM_011545044.1:c.3644T>C	XP_011543346.1:p.Phe1215Ser
XM_011545045.1:c.3644T>C	XP_011543347.1:p.Phe1215Ser
XM_011545046.1:c.3611T>C	XP_011543348.1:p.Phe1204Ser
XM_011545047.1:c.3554T>C	XP_011543349.1:p.Phe1185Ser
XM_011545048.1:c.3425T>C	XP_011543350.1:p.Phe1142Ser
XM_011545049.1:c.3413T>C	XP_011543351.1:p.Phe1138Ser
XM_011545050.1:c.3386T>C	XP_011543352.1:p.Phe1129Ser
XM_011545051.1:c.3644T>C	XP_011543353.1:p.Phe1215Ser
XM_011545052.1:c.3644T>C	XP_011543354.1:p.Phe1215Ser
XR_949938.1:n.3964T>C
XR_949941.1:n.3964T>C
XR_949942.1:n.3966T>C
XR_949943.1:n.3966T>C
XM_011545044.2:c.3644T>C	XP_011543346.1:p.Phe1215Ser
XM_011545046.2:c.3734T>C	XP_011543348.2:p.Phe1245Ser
XM_011545050.2:c.3386T>C	XP_011543352.1:p.Phe1129Ser
XM_017017778.1:c.3734T>C	XP_016873267.1:p.Phe1245Ser
XM_017017779.1:c.3734T>C	XP_016873268.1:p.Phe1245Ser
XM_017017780.1:c.3734T>C	XP_016873269.1:p.Phe1245Ser
XM_017017781.1:c.3644T>C	XP_016873270.1:p.Phe1215Ser
XM_017017782.1:c.3734T>C	XP_016873271.1:p.Phe1245Ser
XM_017017783.1:c.3734T>C	XP_016873272.1:p.Phe1245Ser
XM_017017784.1:c.3734T>C	XP_016873273.1:p.Phe1245Ser
XM_017017785.1:c.3503T>C	XP_016873274.1:p.Phe1168Ser
XM_017017786.1:c.3734T>C	XP_016873275.1:p.Phe1245Ser
XM_017017787.1:c.3734T>C	XP_016873276.1:p.Phe1245Ser
XM_017017788.1:c.3734T>C	XP_016873277.1:p.Phe1245Ser
XR_001747885.1:n.3749T>C
XR_001747886.1:n.3749T>C
XR_001747887.1:n.3749T>C
XR_001747888.1:n.3749T>C
XR_001747889.1:n.3749T>C
NM_000260.4:c.3644T>C MANE Select	NP_000251.3:p.Phe1215Ser
NM_001127180.2:c.3644T>C	NP_001120652.1:p.Phe1215Ser
NM_001369365.1:c.3611T>C	NP_001356294.1:p.Phe1204Ser