Canonical Allele Identifier: CA364762415
Gene: MYO6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75914259G>C , CM000668.2:g.75914259G>C GRCh38
NC_000006.11:g.76623976G>C , CM000668.1:g.76623976G>C GRCh37
NC_000006.10:g.76680696G>C NCBI36
NG_009934.1:g.170068G>C
NG_009934.2:g.170067G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369975.6:c.3540G>C ENSP00000358992.1:p.Lys1180Asn
ENST00000369977.8:c.3636G>C MANE Select ENSP00000358994.3:p.Lys1212Asn
ENST00000369985.9:c.3567G>C ENSP00000359002.3:p.Lys1189Asn
ENST00000664640.1:c.3663G>C ENSP00000499278.1:p.Lys1221Asn
ENST00000671923.1:c.*1647G>C ENSP00000500835.1:n.*1647G>C
ENST00000672093.1:c.3636G>C ENSP00000500710.1:p.Lys1212Asn
ENST00000672162.1:n.1802G>C
ENST00000369975.5:c.3540G>C ENSP00000358992.1:p.Lys1180Asn
ENST00000369977.7:c.3636G>C ENSP00000358994.3:p.Lys1212Asn
ENST00000369981.7:c.3666G>C ENSP00000358998.4:p.Lys1222Asn
ENST00000369985.8:c.3567G>C ENSP00000359002.3:p.Lys1189Asn
ENST00000615563.4:c.3567G>C ENSP00000478013.1:p.Lys1189Asn
ENST00000627432.2:c.3663G>C ENSP00000487348.1:p.Lys1221Asn
NM_001300899.1:c.3567G>C NP_001287828.1:p.Lys1189Asn
NM_004999.3:c.3636G>C NP_004990.3:p.Lys1212Asn
XM_005248719.2:c.3663G>C XP_005248776.1:p.Lys1221Asn
XM_005248720.2:c.3636G>C XP_005248777.1:p.Lys1212Asn
XM_005248721.2:c.3624G>C XP_005248778.1:p.Lys1208Asn
XM_005248722.2:c.3609G>C XP_005248779.1:p.Lys1203Asn
XM_005248724.2:c.3597G>C XP_005248781.1:p.Lys1199Asn
XM_005248726.2:c.3540G>C XP_005248783.1:p.Lys1180Asn
XM_005248719.4:c.3663G>C XP_005248776.1:p.Lys1221Asn
XM_005248720.4:c.3636G>C XP_005248777.1:p.Lys1212Asn
XM_005248721.4:c.3624G>C XP_005248778.1:p.Lys1208Asn
XM_005248722.4:c.3609G>C XP_005248779.1:p.Lys1203Asn
XM_005248724.4:c.3597G>C XP_005248781.1:p.Lys1199Asn
XM_005248726.4:c.3540G>C XP_005248783.1:p.Lys1180Asn
XM_017010899.2:c.3570G>C XP_016866388.1:p.Lys1190Asn
XM_024446447.1:c.3663G>C XP_024302215.1:p.Lys1221Asn
XM_024446448.1:c.3597G>C XP_024302216.1:p.Lys1199Asn
NM_004999.4:c.3636G>C MANE Select NP_004990.3:p.Lys1212Asn
NM_001300899.2:c.3567G>C NP_001287828.1:p.Lys1189Asn
NM_001368136.1:c.3540G>C NP_001355065.1:p.Lys1180Asn
NM_001368137.1:c.3597G>C NP_001355066.1:p.Lys1199Asn
NM_001368138.1:c.3552G>C NP_001355067.1:p.Lys1184Asn
NM_001368865.1:c.3663G>C NP_001355794.1:p.Lys1221Asn
NM_001368866.1:c.3636G>C NP_001355795.1:p.Lys1212Asn
NR_160538.1:n.3865G>C