Canonical Allele Identifier: CA364762468

Gene: MYO6

Linked Data

• ClinVar Variation Id: 505220
• ClinVar RCV Id: RCV000607325
• dbSNP Id: rs1554223853
• MyVariant Identifiers: chr6:g.76623984T>C (hg19) ; chr6:g.75914267T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75914267T>C , CM000668.2:g.75914267T>C	GRCh38
NC_000006.11:g.76623984T>C , CM000668.1:g.76623984T>C	GRCh37
NC_000006.10:g.76680704T>C	NCBI36
NG_009934.1:g.170076T>C
NG_009934.2:g.170075T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369975.6:c.3548T>C	ENSP00000358992.1:p.Ile1183Thr
ENST00000369977.8:c.3644T>C MANE Select	ENSP00000358994.3:p.Ile1215Thr
ENST00000369985.9:c.3575T>C	ENSP00000359002.3:p.Ile1192Thr
ENST00000664640.1:c.3671T>C	ENSP00000499278.1:p.Ile1224Thr
ENST00000671923.1:c.*1655T>C	ENSP00000500835.1:n.*1655T>C
ENST00000672093.1:c.3644T>C	ENSP00000500710.1:p.Ile1215Thr
ENST00000672162.1:n.1810T>C
ENST00000369975.5:c.3548T>C	ENSP00000358992.1:p.Ile1183Thr
ENST00000369977.7:c.3644T>C	ENSP00000358994.3:p.Ile1215Thr
ENST00000369981.7:c.3674T>C	ENSP00000358998.4:p.Ile1225Thr
ENST00000369985.8:c.3575T>C	ENSP00000359002.3:p.Ile1192Thr
ENST00000615563.4:c.3575T>C	ENSP00000478013.1:p.Ile1192Thr
ENST00000627432.2:c.3671T>C	ENSP00000487348.1:p.Ile1224Thr
NM_001300899.1:c.3575T>C	NP_001287828.1:p.Ile1192Thr
NM_004999.3:c.3644T>C	NP_004990.3:p.Ile1215Thr
XM_005248719.2:c.3671T>C	XP_005248776.1:p.Ile1224Thr
XM_005248720.2:c.3644T>C	XP_005248777.1:p.Ile1215Thr
XM_005248721.2:c.3632T>C	XP_005248778.1:p.Ile1211Thr
XM_005248722.2:c.3617T>C	XP_005248779.1:p.Ile1206Thr
XM_005248724.2:c.3605T>C	XP_005248781.1:p.Ile1202Thr
XM_005248726.2:c.3548T>C	XP_005248783.1:p.Ile1183Thr
XM_005248719.4:c.3671T>C	XP_005248776.1:p.Ile1224Thr
XM_005248720.4:c.3644T>C	XP_005248777.1:p.Ile1215Thr
XM_005248721.4:c.3632T>C	XP_005248778.1:p.Ile1211Thr
XM_005248722.4:c.3617T>C	XP_005248779.1:p.Ile1206Thr
XM_005248724.4:c.3605T>C	XP_005248781.1:p.Ile1202Thr
XM_005248726.4:c.3548T>C	XP_005248783.1:p.Ile1183Thr
XM_017010899.2:c.3578T>C	XP_016866388.1:p.Ile1193Thr
XM_024446447.1:c.3671T>C	XP_024302215.1:p.Ile1224Thr
XM_024446448.1:c.3605T>C	XP_024302216.1:p.Ile1202Thr
NM_004999.4:c.3644T>C MANE Select	NP_004990.3:p.Ile1215Thr
NM_001300899.2:c.3575T>C	NP_001287828.1:p.Ile1192Thr
NM_001368136.1:c.3548T>C	NP_001355065.1:p.Ile1183Thr
NM_001368137.1:c.3605T>C	NP_001355066.1:p.Ile1202Thr
NM_001368138.1:c.3560T>C	NP_001355067.1:p.Ile1187Thr
NM_001368865.1:c.3671T>C	NP_001355794.1:p.Ile1224Thr
NM_001368866.1:c.3644T>C	NP_001355795.1:p.Ile1215Thr
NR_160538.1:n.3873T>C