Canonical Allele Identifier: CA364761281

Gene: MYO6

Linked Data

• MyVariant Identifiers: chr6:g.76623824A>C (hg19) ; chr6:g.75914107A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75914107A>C , CM000668.2:g.75914107A>C	GRCh38
NC_000006.11:g.76623824A>C , CM000668.1:g.76623824A>C	GRCh37
NC_000006.10:g.76680544A>C	NCBI36
NG_009934.1:g.169916A>C
NG_009934.2:g.169915A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369975.6:c.3388A>C	ENSP00000358992.1:p.Ile1130Leu
ENST00000369977.8:c.3484A>C MANE Select	ENSP00000358994.3:p.Ile1162Leu
ENST00000369985.9:c.3415A>C	ENSP00000359002.3:p.Ile1139Leu
ENST00000664640.1:c.3511A>C	ENSP00000499278.1:p.Ile1171Leu
ENST00000671923.1:c.*1495A>C	ENSP00000500835.1:n.*1495A>C
ENST00000672093.1:c.3484A>C	ENSP00000500710.1:p.Ile1162Leu
ENST00000672162.1:n.1650A>C
ENST00000369975.5:c.3388A>C	ENSP00000358992.1:p.Ile1130Leu
ENST00000369977.7:c.3484A>C	ENSP00000358994.3:p.Ile1162Leu
ENST00000369981.7:c.3514A>C	ENSP00000358998.4:p.Ile1172Leu
ENST00000369985.8:c.3415A>C	ENSP00000359002.3:p.Ile1139Leu
ENST00000615563.4:c.3415A>C	ENSP00000478013.1:p.Ile1139Leu
ENST00000627432.2:c.3511A>C	ENSP00000487348.1:p.Ile1171Leu
NM_001300899.1:c.3415A>C	NP_001287828.1:p.Ile1139Leu
NM_004999.3:c.3484A>C	NP_004990.3:p.Ile1162Leu
XM_005248719.2:c.3511A>C	XP_005248776.1:p.Ile1171Leu
XM_005248720.2:c.3484A>C	XP_005248777.1:p.Ile1162Leu
XM_005248721.2:c.3472A>C	XP_005248778.1:p.Ile1158Leu
XM_005248722.2:c.3457A>C	XP_005248779.1:p.Ile1153Leu
XM_005248724.2:c.3445A>C	XP_005248781.1:p.Ile1149Leu
XM_005248726.2:c.3388A>C	XP_005248783.1:p.Ile1130Leu
XM_005248719.4:c.3511A>C	XP_005248776.1:p.Ile1171Leu
XM_005248720.4:c.3484A>C	XP_005248777.1:p.Ile1162Leu
XM_005248721.4:c.3472A>C	XP_005248778.1:p.Ile1158Leu
XM_005248722.4:c.3457A>C	XP_005248779.1:p.Ile1153Leu
XM_005248724.4:c.3445A>C	XP_005248781.1:p.Ile1149Leu
XM_005248726.4:c.3388A>C	XP_005248783.1:p.Ile1130Leu
XM_017010899.2:c.3418A>C	XP_016866388.1:p.Ile1140Leu
XM_024446447.1:c.3511A>C	XP_024302215.1:p.Ile1171Leu
XM_024446448.1:c.3445A>C	XP_024302216.1:p.Ile1149Leu
NM_004999.4:c.3484A>C MANE Select	NP_004990.3:p.Ile1162Leu
NM_001300899.2:c.3415A>C	NP_001287828.1:p.Ile1139Leu
NM_001368136.1:c.3388A>C	NP_001355065.1:p.Ile1130Leu
NM_001368137.1:c.3445A>C	NP_001355066.1:p.Ile1149Leu
NM_001368138.1:c.3400A>C	NP_001355067.1:p.Ile1134Leu
NM_001368865.1:c.3511A>C	NP_001355794.1:p.Ile1171Leu
NM_001368866.1:c.3484A>C	NP_001355795.1:p.Ile1162Leu
NR_160538.1:n.3713A>C