Canonical Allele Identifier: CA364761438
Gene: MYO6 HGNC NCBI

Linked Data

gnomAD v4: 6-75914126-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75914126A>C , CM000668.2:g.75914126A>C GRCh38
NC_000006.11:g.76623843A>C , CM000668.1:g.76623843A>C GRCh37
NC_000006.10:g.76680563A>C NCBI36
NG_009934.1:g.169935A>C
NG_009934.2:g.169934A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369975.6:c.3407A>C ENSP00000358992.1:p.Gln1136Pro
ENST00000369977.8:c.3503A>C MANE Select ENSP00000358994.3:p.Gln1168Pro
ENST00000369985.9:c.3434A>C ENSP00000359002.3:p.Gln1145Pro
ENST00000664640.1:c.3530A>C ENSP00000499278.1:p.Gln1177Pro
ENST00000671923.1:c.*1514A>C ENSP00000500835.1:n.*1514A>C
ENST00000672093.1:c.3503A>C ENSP00000500710.1:p.Gln1168Pro
ENST00000672162.1:n.1669A>C
ENST00000369975.5:c.3407A>C ENSP00000358992.1:p.Gln1136Pro
ENST00000369977.7:c.3503A>C ENSP00000358994.3:p.Gln1168Pro
ENST00000369981.7:c.3533A>C ENSP00000358998.4:p.Gln1178Pro
ENST00000369985.8:c.3434A>C ENSP00000359002.3:p.Gln1145Pro
ENST00000615563.4:c.3434A>C ENSP00000478013.1:p.Gln1145Pro
ENST00000627432.2:c.3530A>C ENSP00000487348.1:p.Gln1177Pro
NM_001300899.1:c.3434A>C NP_001287828.1:p.Gln1145Pro
NM_004999.3:c.3503A>C NP_004990.3:p.Gln1168Pro
XM_005248719.2:c.3530A>C XP_005248776.1:p.Gln1177Pro
XM_005248720.2:c.3503A>C XP_005248777.1:p.Gln1168Pro
XM_005248721.2:c.3491A>C XP_005248778.1:p.Gln1164Pro
XM_005248722.2:c.3476A>C XP_005248779.1:p.Gln1159Pro
XM_005248724.2:c.3464A>C XP_005248781.1:p.Gln1155Pro
XM_005248726.2:c.3407A>C XP_005248783.1:p.Gln1136Pro
XM_005248719.4:c.3530A>C XP_005248776.1:p.Gln1177Pro
XM_005248720.4:c.3503A>C XP_005248777.1:p.Gln1168Pro
XM_005248721.4:c.3491A>C XP_005248778.1:p.Gln1164Pro
XM_005248722.4:c.3476A>C XP_005248779.1:p.Gln1159Pro
XM_005248724.4:c.3464A>C XP_005248781.1:p.Gln1155Pro
XM_005248726.4:c.3407A>C XP_005248783.1:p.Gln1136Pro
XM_017010899.2:c.3437A>C XP_016866388.1:p.Gln1146Pro
XM_024446447.1:c.3530A>C XP_024302215.1:p.Gln1177Pro
XM_024446448.1:c.3464A>C XP_024302216.1:p.Gln1155Pro
NM_004999.4:c.3503A>C MANE Select NP_004990.3:p.Gln1168Pro
NM_001300899.2:c.3434A>C NP_001287828.1:p.Gln1145Pro
NM_001368136.1:c.3407A>C NP_001355065.1:p.Gln1136Pro
NM_001368137.1:c.3464A>C NP_001355066.1:p.Gln1155Pro
NM_001368138.1:c.3419A>C NP_001355067.1:p.Gln1140Pro
NM_001368865.1:c.3530A>C NP_001355794.1:p.Gln1177Pro
NM_001368866.1:c.3503A>C NP_001355795.1:p.Gln1168Pro
NR_160538.1:n.3732A>C