Canonical Allele Identifier: CA2497157112
Gene: MYO6 HGNC NCBI

Linked Data

dbSNP Id: rs1780972584

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75914088dup , CM000668.2:g.75914088dup GRCh38
NC_000006.11:g.76623805dup , CM000668.1:g.76623805dup GRCh37
NC_000006.10:g.76680525dup NCBI36
NG_009934.1:g.169897dup
NG_009934.2:g.169896dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000369975.6:c.3369dup ENSP00000358992.1:p.Pro1124SerfsTer8
ENST00000369977.8:c.3465dup MANE Select ENSP00000358994.3:p.Pro1156SerfsTer8
ENST00000369985.9:c.3396dup ENSP00000359002.3:p.Pro1133SerfsTer8
ENST00000664640.1:c.3492dup ENSP00000499278.1:p.Pro1165SerfsTer8
ENST00000671923.1:c.*1476dup ENSP00000500835.1:n.*1476dup
ENST00000672093.1:c.3465dup ENSP00000500710.1:p.Pro1156SerfsTer8
ENST00000672162.1:n.1631dup
ENST00000369975.5:c.3369dup ENSP00000358992.1:p.Pro1124SerfsTer8
ENST00000369977.7:c.3465dup ENSP00000358994.3:p.Pro1156SerfsTer8
ENST00000369981.7:c.3495dup ENSP00000358998.4:p.Pro1166SerfsTer8
ENST00000369985.8:c.3396dup ENSP00000359002.3:p.Pro1133SerfsTer8
ENST00000615563.4:c.3396dup ENSP00000478013.1:p.Pro1133SerfsTer8
ENST00000627432.2:c.3492dup ENSP00000487348.1:p.Pro1165SerfsTer8
NM_001300899.1:c.3396dup NP_001287828.1:p.Pro1133SerfsTer8
NM_004999.3:c.3465dup NP_004990.3:p.Pro1156SerfsTer8
XM_005248719.2:c.3492dup XP_005248776.1:p.Pro1165SerfsTer8
XM_005248720.2:c.3465dup XP_005248777.1:p.Pro1156SerfsTer8
XM_005248721.2:c.3453dup XP_005248778.1:p.Pro1152SerfsTer8
XM_005248722.2:c.3438dup XP_005248779.1:p.Pro1147SerfsTer8
XM_005248724.2:c.3426dup XP_005248781.1:p.Pro1143SerfsTer8
XM_005248726.2:c.3369dup XP_005248783.1:p.Pro1124SerfsTer8
XM_005248719.4:c.3492dup XP_005248776.1:p.Pro1165SerfsTer8
XM_005248720.4:c.3465dup XP_005248777.1:p.Pro1156SerfsTer8
XM_005248721.4:c.3453dup XP_005248778.1:p.Pro1152SerfsTer8
XM_005248722.4:c.3438dup XP_005248779.1:p.Pro1147SerfsTer8
XM_005248724.4:c.3426dup XP_005248781.1:p.Pro1143SerfsTer8
XM_005248726.4:c.3369dup XP_005248783.1:p.Pro1124SerfsTer8
XM_017010899.2:c.3399dup XP_016866388.1:p.Pro1134SerfsTer8
XM_024446447.1:c.3492dup XP_024302215.1:p.Pro1165SerfsTer8
XM_024446448.1:c.3426dup XP_024302216.1:p.Pro1143SerfsTer8
NM_004999.4:c.3465dup MANE Select NP_004990.3:p.Pro1156SerfsTer8
NM_001300899.2:c.3396dup NP_001287828.1:p.Pro1133SerfsTer8
NM_001368136.1:c.3369dup NP_001355065.1:p.Pro1124SerfsTer8
NM_001368137.1:c.3426dup NP_001355066.1:p.Pro1143SerfsTer8
NM_001368138.1:c.3381dup NP_001355067.1:p.Pro1128SerfsTer8
NM_001368865.1:c.3492dup NP_001355794.1:p.Pro1165SerfsTer8
NM_001368866.1:c.3465dup NP_001355795.1:p.Pro1156SerfsTer8
NR_160538.1:n.3694dup