Canonical Allele Identifier: CA450938583

Gene: MYO6

Linked Data

• MyVariant Identifiers: chr6:g.76623991T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75914274T>A , CM000668.2:g.75914274T>A	GRCh38
NC_000006.11:g.76623991T>A , CM000668.1:g.76623991T>A	GRCh37
NC_000006.10:g.76680711T>A	NCBI36
NG_009934.1:g.170083T>A
NG_009934.2:g.170082T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369975.6:c.3555T>A	ENSP00000358992.1:p.Leu1185=
ENST00000369977.8:c.3651T>A MANE Select	ENSP00000358994.3:p.Leu1217=
ENST00000369985.9:c.3582T>A	ENSP00000359002.3:p.Leu1194=
ENST00000664640.1:c.3678T>A	ENSP00000499278.1:p.Leu1226=
ENST00000671923.1:c.*1662T>A	ENSP00000500835.1:n.*1662T>A
ENST00000672093.1:c.3651T>A	ENSP00000500710.1:p.Leu1217=
ENST00000672162.1:n.1817T>A
ENST00000369975.5:c.3555T>A	ENSP00000358992.1:p.Leu1185=
ENST00000369977.7:c.3651T>A	ENSP00000358994.3:p.Leu1217=
ENST00000369981.7:c.3681T>A	ENSP00000358998.4:p.Leu1227=
ENST00000369985.8:c.3582T>A	ENSP00000359002.3:p.Leu1194=
ENST00000615563.4:c.3582T>A	ENSP00000478013.1:p.Leu1194=
ENST00000627432.2:c.3678T>A	ENSP00000487348.1:p.Leu1226=
NM_001300899.1:c.3582T>A	NP_001287828.1:p.Leu1194=
NM_004999.3:c.3651T>A	NP_004990.3:p.Leu1217=
XM_005248719.2:c.3678T>A	XP_005248776.1:p.Leu1226=
XM_005248720.2:c.3651T>A	XP_005248777.1:p.Leu1217=
XM_005248721.2:c.3639T>A	XP_005248778.1:p.Leu1213=
XM_005248722.2:c.3624T>A	XP_005248779.1:p.Leu1208=
XM_005248724.2:c.3612T>A	XP_005248781.1:p.Leu1204=
XM_005248726.2:c.3555T>A	XP_005248783.1:p.Leu1185=
XM_005248719.4:c.3678T>A	XP_005248776.1:p.Leu1226=
XM_005248720.4:c.3651T>A	XP_005248777.1:p.Leu1217=
XM_005248721.4:c.3639T>A	XP_005248778.1:p.Leu1213=
XM_005248722.4:c.3624T>A	XP_005248779.1:p.Leu1208=
XM_005248724.4:c.3612T>A	XP_005248781.1:p.Leu1204=
XM_005248726.4:c.3555T>A	XP_005248783.1:p.Leu1185=
XM_017010899.2:c.3585T>A	XP_016866388.1:p.Leu1195=
XM_024446447.1:c.3678T>A	XP_024302215.1:p.Leu1226=
XM_024446448.1:c.3612T>A	XP_024302216.1:p.Leu1204=
NM_004999.4:c.3651T>A MANE Select	NP_004990.3:p.Leu1217=
NM_001300899.2:c.3582T>A	NP_001287828.1:p.Leu1194=
NM_001368136.1:c.3555T>A	NP_001355065.1:p.Leu1185=
NM_001368137.1:c.3612T>A	NP_001355066.1:p.Leu1204=
NM_001368138.1:c.3567T>A	NP_001355067.1:p.Leu1189=
NM_001368865.1:c.3678T>A	NP_001355794.1:p.Leu1226=
NM_001368866.1:c.3651T>A	NP_001355795.1:p.Leu1217=
NR_160538.1:n.3880T>A