Canonical Allele Identifier: CA450938575

Gene: MYO6

Linked Data

• MyVariant Identifiers: chr6:g.76623979A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75914262A>C , CM000668.2:g.75914262A>C	GRCh38
NC_000006.11:g.76623979A>C , CM000668.1:g.76623979A>C	GRCh37
NC_000006.10:g.76680699A>C	NCBI36
NG_009934.1:g.170071A>C
NG_009934.2:g.170070A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369975.6:c.3543A>C	ENSP00000358992.1:p.Pro1181=
ENST00000369977.8:c.3639A>C MANE Select	ENSP00000358994.3:p.Pro1213=
ENST00000369985.9:c.3570A>C	ENSP00000359002.3:p.Pro1190=
ENST00000664640.1:c.3666A>C	ENSP00000499278.1:p.Pro1222=
ENST00000671923.1:c.*1650A>C	ENSP00000500835.1:n.*1650A>C
ENST00000672093.1:c.3639A>C	ENSP00000500710.1:p.Pro1213=
ENST00000672162.1:n.1805A>C
ENST00000369975.5:c.3543A>C	ENSP00000358992.1:p.Pro1181=
ENST00000369977.7:c.3639A>C	ENSP00000358994.3:p.Pro1213=
ENST00000369981.7:c.3669A>C	ENSP00000358998.4:p.Pro1223=
ENST00000369985.8:c.3570A>C	ENSP00000359002.3:p.Pro1190=
ENST00000615563.4:c.3570A>C	ENSP00000478013.1:p.Pro1190=
ENST00000627432.2:c.3666A>C	ENSP00000487348.1:p.Pro1222=
NM_001300899.1:c.3570A>C	NP_001287828.1:p.Pro1190=
NM_004999.3:c.3639A>C	NP_004990.3:p.Pro1213=
XM_005248719.2:c.3666A>C	XP_005248776.1:p.Pro1222=
XM_005248720.2:c.3639A>C	XP_005248777.1:p.Pro1213=
XM_005248721.2:c.3627A>C	XP_005248778.1:p.Pro1209=
XM_005248722.2:c.3612A>C	XP_005248779.1:p.Pro1204=
XM_005248724.2:c.3600A>C	XP_005248781.1:p.Pro1200=
XM_005248726.2:c.3543A>C	XP_005248783.1:p.Pro1181=
XM_005248719.4:c.3666A>C	XP_005248776.1:p.Pro1222=
XM_005248720.4:c.3639A>C	XP_005248777.1:p.Pro1213=
XM_005248721.4:c.3627A>C	XP_005248778.1:p.Pro1209=
XM_005248722.4:c.3612A>C	XP_005248779.1:p.Pro1204=
XM_005248724.4:c.3600A>C	XP_005248781.1:p.Pro1200=
XM_005248726.4:c.3543A>C	XP_005248783.1:p.Pro1181=
XM_017010899.2:c.3573A>C	XP_016866388.1:p.Pro1191=
XM_024446447.1:c.3666A>C	XP_024302215.1:p.Pro1222=
XM_024446448.1:c.3600A>C	XP_024302216.1:p.Pro1200=
NM_004999.4:c.3639A>C MANE Select	NP_004990.3:p.Pro1213=
NM_001300899.2:c.3570A>C	NP_001287828.1:p.Pro1190=
NM_001368136.1:c.3543A>C	NP_001355065.1:p.Pro1181=
NM_001368137.1:c.3600A>C	NP_001355066.1:p.Pro1200=
NM_001368138.1:c.3555A>C	NP_001355067.1:p.Pro1185=
NM_001368865.1:c.3666A>C	NP_001355794.1:p.Pro1222=
NM_001368866.1:c.3639A>C	NP_001355795.1:p.Pro1213=
NR_160538.1:n.3868A>C