Canonical Allele Identifier: CA450938562
Gene: MYO6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.76623952G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75914235G>C , CM000668.2:g.75914235G>C GRCh38
NC_000006.11:g.76623952G>C , CM000668.1:g.76623952G>C GRCh37
NC_000006.10:g.76680672G>C NCBI36
NG_009934.1:g.170044G>C
NG_009934.2:g.170043G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369975.6:c.3516G>C ENSP00000358992.1:p.Arg1172=
ENST00000369977.8:c.3612G>C MANE Select ENSP00000358994.3:p.Arg1204=
ENST00000369985.9:c.3543G>C ENSP00000359002.3:p.Arg1181=
ENST00000664640.1:c.3639G>C ENSP00000499278.1:p.Arg1213=
ENST00000671923.1:c.*1623G>C ENSP00000500835.1:n.*1623G>C
ENST00000672093.1:c.3612G>C ENSP00000500710.1:p.Arg1204=
ENST00000672162.1:n.1778G>C
ENST00000369975.5:c.3516G>C ENSP00000358992.1:p.Arg1172=
ENST00000369977.7:c.3612G>C ENSP00000358994.3:p.Arg1204=
ENST00000369981.7:c.3642G>C ENSP00000358998.4:p.Arg1214=
ENST00000369985.8:c.3543G>C ENSP00000359002.3:p.Arg1181=
ENST00000615563.4:c.3543G>C ENSP00000478013.1:p.Arg1181=
ENST00000627432.2:c.3639G>C ENSP00000487348.1:p.Arg1213=
NM_001300899.1:c.3543G>C NP_001287828.1:p.Arg1181=
NM_004999.3:c.3612G>C NP_004990.3:p.Arg1204=
XM_005248719.2:c.3639G>C XP_005248776.1:p.Arg1213=
XM_005248720.2:c.3612G>C XP_005248777.1:p.Arg1204=
XM_005248721.2:c.3600G>C XP_005248778.1:p.Arg1200=
XM_005248722.2:c.3585G>C XP_005248779.1:p.Arg1195=
XM_005248724.2:c.3573G>C XP_005248781.1:p.Arg1191=
XM_005248726.2:c.3516G>C XP_005248783.1:p.Arg1172=
XM_005248719.4:c.3639G>C XP_005248776.1:p.Arg1213=
XM_005248720.4:c.3612G>C XP_005248777.1:p.Arg1204=
XM_005248721.4:c.3600G>C XP_005248778.1:p.Arg1200=
XM_005248722.4:c.3585G>C XP_005248779.1:p.Arg1195=
XM_005248724.4:c.3573G>C XP_005248781.1:p.Arg1191=
XM_005248726.4:c.3516G>C XP_005248783.1:p.Arg1172=
XM_017010899.2:c.3546G>C XP_016866388.1:p.Arg1182=
XM_024446447.1:c.3639G>C XP_024302215.1:p.Arg1213=
XM_024446448.1:c.3573G>C XP_024302216.1:p.Arg1191=
NM_004999.4:c.3612G>C MANE Select NP_004990.3:p.Arg1204=
NM_001300899.2:c.3543G>C NP_001287828.1:p.Arg1181=
NM_001368136.1:c.3516G>C NP_001355065.1:p.Arg1172=
NM_001368137.1:c.3573G>C NP_001355066.1:p.Arg1191=
NM_001368138.1:c.3528G>C NP_001355067.1:p.Arg1176=
NM_001368865.1:c.3639G>C NP_001355794.1:p.Arg1213=
NM_001368866.1:c.3612G>C NP_001355795.1:p.Arg1204=
NR_160538.1:n.3841G>C