Canonical Allele Identifier: CA364761775
Gene: MYO6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75914177C>T , CM000668.2:g.75914177C>T GRCh38
NC_000006.11:g.76623894C>T , CM000668.1:g.76623894C>T GRCh37
NC_000006.10:g.76680614C>T NCBI36
NG_009934.1:g.169986C>T
NG_009934.2:g.169985C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369975.6:c.3458C>T ENSP00000358992.1:p.Pro1153Leu
ENST00000369977.8:c.3554C>T MANE Select ENSP00000358994.3:p.Pro1185Leu
ENST00000369985.9:c.3485C>T ENSP00000359002.3:p.Pro1162Leu
ENST00000664640.1:c.3581C>T ENSP00000499278.1:p.Pro1194Leu
ENST00000671923.1:c.*1565C>T ENSP00000500835.1:n.*1565C>T
ENST00000672093.1:c.3554C>T ENSP00000500710.1:p.Pro1185Leu
ENST00000672162.1:n.1720C>T
ENST00000369975.5:c.3458C>T ENSP00000358992.1:p.Pro1153Leu
ENST00000369977.7:c.3554C>T ENSP00000358994.3:p.Pro1185Leu
ENST00000369981.7:c.3584C>T ENSP00000358998.4:p.Pro1195Leu
ENST00000369985.8:c.3485C>T ENSP00000359002.3:p.Pro1162Leu
ENST00000615563.4:c.3485C>T ENSP00000478013.1:p.Pro1162Leu
ENST00000627432.2:c.3581C>T ENSP00000487348.1:p.Pro1194Leu
NM_001300899.1:c.3485C>T NP_001287828.1:p.Pro1162Leu
NM_004999.3:c.3554C>T NP_004990.3:p.Pro1185Leu
XM_005248719.2:c.3581C>T XP_005248776.1:p.Pro1194Leu
XM_005248720.2:c.3554C>T XP_005248777.1:p.Pro1185Leu
XM_005248721.2:c.3542C>T XP_005248778.1:p.Pro1181Leu
XM_005248722.2:c.3527C>T XP_005248779.1:p.Pro1176Leu
XM_005248724.2:c.3515C>T XP_005248781.1:p.Pro1172Leu
XM_005248726.2:c.3458C>T XP_005248783.1:p.Pro1153Leu
XM_005248719.4:c.3581C>T XP_005248776.1:p.Pro1194Leu
XM_005248720.4:c.3554C>T XP_005248777.1:p.Pro1185Leu
XM_005248721.4:c.3542C>T XP_005248778.1:p.Pro1181Leu
XM_005248722.4:c.3527C>T XP_005248779.1:p.Pro1176Leu
XM_005248724.4:c.3515C>T XP_005248781.1:p.Pro1172Leu
XM_005248726.4:c.3458C>T XP_005248783.1:p.Pro1153Leu
XM_017010899.2:c.3488C>T XP_016866388.1:p.Pro1163Leu
XM_024446447.1:c.3581C>T XP_024302215.1:p.Pro1194Leu
XM_024446448.1:c.3515C>T XP_024302216.1:p.Pro1172Leu
NM_004999.4:c.3554C>T MANE Select NP_004990.3:p.Pro1185Leu
NM_001300899.2:c.3485C>T NP_001287828.1:p.Pro1162Leu
NM_001368136.1:c.3458C>T NP_001355065.1:p.Pro1153Leu
NM_001368137.1:c.3515C>T NP_001355066.1:p.Pro1172Leu
NM_001368138.1:c.3470C>T NP_001355067.1:p.Pro1157Leu
NM_001368865.1:c.3581C>T NP_001355794.1:p.Pro1194Leu
NM_001368866.1:c.3554C>T NP_001355795.1:p.Pro1185Leu
NR_160538.1:n.3783C>T