Canonical Allele Identifier: CA364762008

Gene: MYO6

Linked Data

• gnomAD v4: 6-75914203-T-C
• MyVariant Identifiers: chr6:g.76623920T>C (hg19) ; chr6:g.75914203T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75914203T>C , CM000668.2:g.75914203T>C	GRCh38
NC_000006.11:g.76623920T>C , CM000668.1:g.76623920T>C	GRCh37
NC_000006.10:g.76680640T>C	NCBI36
NG_009934.1:g.170012T>C
NG_009934.2:g.170011T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369975.6:c.3484T>C	ENSP00000358992.1:p.Tyr1162His
ENST00000369977.8:c.3580T>C MANE Select	ENSP00000358994.3:p.Tyr1194His
ENST00000369985.9:c.3511T>C	ENSP00000359002.3:p.Tyr1171His
ENST00000664640.1:c.3607T>C	ENSP00000499278.1:p.Tyr1203His
ENST00000671923.1:c.*1591T>C	ENSP00000500835.1:n.*1591T>C
ENST00000672093.1:c.3580T>C	ENSP00000500710.1:p.Tyr1194His
ENST00000672162.1:n.1746T>C
ENST00000369975.5:c.3484T>C	ENSP00000358992.1:p.Tyr1162His
ENST00000369977.7:c.3580T>C	ENSP00000358994.3:p.Tyr1194His
ENST00000369981.7:c.3610T>C	ENSP00000358998.4:p.Tyr1204His
ENST00000369985.8:c.3511T>C	ENSP00000359002.3:p.Tyr1171His
ENST00000615563.4:c.3511T>C	ENSP00000478013.1:p.Tyr1171His
ENST00000627432.2:c.3607T>C	ENSP00000487348.1:p.Tyr1203His
NM_001300899.1:c.3511T>C	NP_001287828.1:p.Tyr1171His
NM_004999.3:c.3580T>C	NP_004990.3:p.Tyr1194His
XM_005248719.2:c.3607T>C	XP_005248776.1:p.Tyr1203His
XM_005248720.2:c.3580T>C	XP_005248777.1:p.Tyr1194His
XM_005248721.2:c.3568T>C	XP_005248778.1:p.Tyr1190His
XM_005248722.2:c.3553T>C	XP_005248779.1:p.Tyr1185His
XM_005248724.2:c.3541T>C	XP_005248781.1:p.Tyr1181His
XM_005248726.2:c.3484T>C	XP_005248783.1:p.Tyr1162His
XM_005248719.4:c.3607T>C	XP_005248776.1:p.Tyr1203His
XM_005248720.4:c.3580T>C	XP_005248777.1:p.Tyr1194His
XM_005248721.4:c.3568T>C	XP_005248778.1:p.Tyr1190His
XM_005248722.4:c.3553T>C	XP_005248779.1:p.Tyr1185His
XM_005248724.4:c.3541T>C	XP_005248781.1:p.Tyr1181His
XM_005248726.4:c.3484T>C	XP_005248783.1:p.Tyr1162His
XM_017010899.2:c.3514T>C	XP_016866388.1:p.Tyr1172His
XM_024446447.1:c.3607T>C	XP_024302215.1:p.Tyr1203His
XM_024446448.1:c.3541T>C	XP_024302216.1:p.Tyr1181His
NM_004999.4:c.3580T>C MANE Select	NP_004990.3:p.Tyr1194His
NM_001300899.2:c.3511T>C	NP_001287828.1:p.Tyr1171His
NM_001368136.1:c.3484T>C	NP_001355065.1:p.Tyr1162His
NM_001368137.1:c.3541T>C	NP_001355066.1:p.Tyr1181His
NM_001368138.1:c.3496T>C	NP_001355067.1:p.Tyr1166His
NM_001368865.1:c.3607T>C	NP_001355794.1:p.Tyr1203His
NM_001368866.1:c.3580T>C	NP_001355795.1:p.Tyr1194His
NR_160538.1:n.3809T>C