Canonical Allele Identifier: CA364761943
Gene: MYO6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75914192A>T , CM000668.2:g.75914192A>T GRCh38
NC_000006.11:g.76623909A>T , CM000668.1:g.76623909A>T GRCh37
NC_000006.10:g.76680629A>T NCBI36
NG_009934.1:g.170001A>T
NG_009934.2:g.170000A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369975.6:c.3473A>T ENSP00000358992.1:p.Lys1158Ile
ENST00000369977.8:c.3569A>T MANE Select ENSP00000358994.3:p.Lys1190Ile
ENST00000369985.9:c.3500A>T ENSP00000359002.3:p.Lys1167Ile
ENST00000664640.1:c.3596A>T ENSP00000499278.1:p.Lys1199Ile
ENST00000671923.1:c.*1580A>T ENSP00000500835.1:n.*1580A>T
ENST00000672093.1:c.3569A>T ENSP00000500710.1:p.Lys1190Ile
ENST00000672162.1:n.1735A>T
ENST00000369975.5:c.3473A>T ENSP00000358992.1:p.Lys1158Ile
ENST00000369977.7:c.3569A>T ENSP00000358994.3:p.Lys1190Ile
ENST00000369981.7:c.3599A>T ENSP00000358998.4:p.Lys1200Ile
ENST00000369985.8:c.3500A>T ENSP00000359002.3:p.Lys1167Ile
ENST00000615563.4:c.3500A>T ENSP00000478013.1:p.Lys1167Ile
ENST00000627432.2:c.3596A>T ENSP00000487348.1:p.Lys1199Ile
NM_001300899.1:c.3500A>T NP_001287828.1:p.Lys1167Ile
NM_004999.3:c.3569A>T NP_004990.3:p.Lys1190Ile
XM_005248719.2:c.3596A>T XP_005248776.1:p.Lys1199Ile
XM_005248720.2:c.3569A>T XP_005248777.1:p.Lys1190Ile
XM_005248721.2:c.3557A>T XP_005248778.1:p.Lys1186Ile
XM_005248722.2:c.3542A>T XP_005248779.1:p.Lys1181Ile
XM_005248724.2:c.3530A>T XP_005248781.1:p.Lys1177Ile
XM_005248726.2:c.3473A>T XP_005248783.1:p.Lys1158Ile
XM_005248719.4:c.3596A>T XP_005248776.1:p.Lys1199Ile
XM_005248720.4:c.3569A>T XP_005248777.1:p.Lys1190Ile
XM_005248721.4:c.3557A>T XP_005248778.1:p.Lys1186Ile
XM_005248722.4:c.3542A>T XP_005248779.1:p.Lys1181Ile
XM_005248724.4:c.3530A>T XP_005248781.1:p.Lys1177Ile
XM_005248726.4:c.3473A>T XP_005248783.1:p.Lys1158Ile
XM_017010899.2:c.3503A>T XP_016866388.1:p.Lys1168Ile
XM_024446447.1:c.3596A>T XP_024302215.1:p.Lys1199Ile
XM_024446448.1:c.3530A>T XP_024302216.1:p.Lys1177Ile
NM_004999.4:c.3569A>T MANE Select NP_004990.3:p.Lys1190Ile
NM_001300899.2:c.3500A>T NP_001287828.1:p.Lys1167Ile
NM_001368136.1:c.3473A>T NP_001355065.1:p.Lys1158Ile
NM_001368137.1:c.3530A>T NP_001355066.1:p.Lys1177Ile
NM_001368138.1:c.3485A>T NP_001355067.1:p.Lys1162Ile
NM_001368865.1:c.3596A>T NP_001355794.1:p.Lys1199Ile
NM_001368866.1:c.3569A>T NP_001355795.1:p.Lys1190Ile
NR_160538.1:n.3798A>T