Canonical Allele Identifier: CA450938554
Gene: MYO6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.76623940A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75914223A>T , CM000668.2:g.75914223A>T GRCh38
NC_000006.11:g.76623940A>T , CM000668.1:g.76623940A>T GRCh37
NC_000006.10:g.76680660A>T NCBI36
NG_009934.1:g.170032A>T
NG_009934.2:g.170031A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369975.6:c.3504A>T ENSP00000358992.1:p.Pro1168=
ENST00000369977.8:c.3600A>T MANE Select ENSP00000358994.3:p.Pro1200=
ENST00000369985.9:c.3531A>T ENSP00000359002.3:p.Pro1177=
ENST00000664640.1:c.3627A>T ENSP00000499278.1:p.Pro1209=
ENST00000671923.1:c.*1611A>T ENSP00000500835.1:n.*1611A>T
ENST00000672093.1:c.3600A>T ENSP00000500710.1:p.Pro1200=
ENST00000672162.1:n.1766A>T
ENST00000369975.5:c.3504A>T ENSP00000358992.1:p.Pro1168=
ENST00000369977.7:c.3600A>T ENSP00000358994.3:p.Pro1200=
ENST00000369981.7:c.3630A>T ENSP00000358998.4:p.Pro1210=
ENST00000369985.8:c.3531A>T ENSP00000359002.3:p.Pro1177=
ENST00000615563.4:c.3531A>T ENSP00000478013.1:p.Pro1177=
ENST00000627432.2:c.3627A>T ENSP00000487348.1:p.Pro1209=
NM_001300899.1:c.3531A>T NP_001287828.1:p.Pro1177=
NM_004999.3:c.3600A>T NP_004990.3:p.Pro1200=
XM_005248719.2:c.3627A>T XP_005248776.1:p.Pro1209=
XM_005248720.2:c.3600A>T XP_005248777.1:p.Pro1200=
XM_005248721.2:c.3588A>T XP_005248778.1:p.Pro1196=
XM_005248722.2:c.3573A>T XP_005248779.1:p.Pro1191=
XM_005248724.2:c.3561A>T XP_005248781.1:p.Pro1187=
XM_005248726.2:c.3504A>T XP_005248783.1:p.Pro1168=
XM_005248719.4:c.3627A>T XP_005248776.1:p.Pro1209=
XM_005248720.4:c.3600A>T XP_005248777.1:p.Pro1200=
XM_005248721.4:c.3588A>T XP_005248778.1:p.Pro1196=
XM_005248722.4:c.3573A>T XP_005248779.1:p.Pro1191=
XM_005248724.4:c.3561A>T XP_005248781.1:p.Pro1187=
XM_005248726.4:c.3504A>T XP_005248783.1:p.Pro1168=
XM_017010899.2:c.3534A>T XP_016866388.1:p.Pro1178=
XM_024446447.1:c.3627A>T XP_024302215.1:p.Pro1209=
XM_024446448.1:c.3561A>T XP_024302216.1:p.Pro1187=
NM_004999.4:c.3600A>T MANE Select NP_004990.3:p.Pro1200=
NM_001300899.2:c.3531A>T NP_001287828.1:p.Pro1177=
NM_001368136.1:c.3504A>T NP_001355065.1:p.Pro1168=
NM_001368137.1:c.3561A>T NP_001355066.1:p.Pro1187=
NM_001368138.1:c.3516A>T NP_001355067.1:p.Pro1172=
NM_001368865.1:c.3627A>T NP_001355794.1:p.Pro1209=
NM_001368866.1:c.3600A>T NP_001355795.1:p.Pro1200=
NR_160538.1:n.3829A>T