Canonical Allele Identifier: CA3897736

Gene: MYO6

Linked Data

• dbSNP Id: rs558015163
• ExAC: 6:76623780 C / T
• gnomAD v2: 6-76623780-C-T
• gnomAD v3: 6-75914063-C-T
• gnomAD v4: 6-75914063-C-T
• MyVariant Identifiers: chr6:g.76623780C>T (hg19) ; chr6:g.75914063C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75914063C>T , CM000668.2:g.75914063C>T	GRCh38
NC_000006.11:g.76623780C>T , CM000668.1:g.76623780C>T	GRCh37
NC_000006.10:g.76680500C>T	NCBI36
NG_009934.1:g.169872C>T
NG_009934.2:g.169871C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369975.6:c.3344C>T	ENSP00000358992.1:p.Ala1115Val
ENST00000369977.8:c.3440C>T MANE Select	ENSP00000358994.3:p.Pro1147Leu
ENST00000369985.9:c.3371C>T	ENSP00000359002.3:p.Pro1124Leu
ENST00000664640.1:c.3467C>T	ENSP00000499278.1:p.Pro1156Leu
ENST00000671923.1:c.*1451C>T	ENSP00000500835.1:n.*1451C>T
ENST00000672093.1:c.3440C>T	ENSP00000500710.1:p.Ala1147Val
ENST00000672162.1:n.1606C>T
ENST00000369975.5:c.3344C>T	ENSP00000358992.1:p.Ala1115Val
ENST00000369977.7:c.3440C>T	ENSP00000358994.3:p.Pro1147Leu
ENST00000369981.7:c.3470C>T	ENSP00000358998.4:p.Pro1157Leu
ENST00000369985.8:c.3371C>T	ENSP00000359002.3:p.Pro1124Leu
ENST00000615563.4:c.3371C>T	ENSP00000478013.1:p.Pro1124Leu
ENST00000627432.2:c.3467C>T	ENSP00000487348.1:p.Pro1156Leu
NM_001300899.1:c.3371C>T	NP_001287828.1:p.Pro1124Leu
NM_004999.3:c.3440C>T	NP_004990.3:p.Pro1147Leu
XM_005248719.2:c.3467C>T	XP_005248776.1:p.Pro1156Leu
XM_005248720.2:c.3440C>T	XP_005248777.1:p.Ala1147Val
XM_005248721.2:c.3428C>T	XP_005248778.1:p.Pro1143Leu
XM_005248722.2:c.3413C>T	XP_005248779.1:p.Ala1138Val
XM_005248724.2:c.3401C>T	XP_005248781.1:p.Pro1134Leu
XM_005248726.2:c.3344C>T	XP_005248783.1:p.Ala1115Val
XM_005248719.4:c.3467C>T	XP_005248776.1:p.Pro1156Leu
XM_005248720.4:c.3440C>T	XP_005248777.1:p.Ala1147Val
XM_005248721.4:c.3428C>T	XP_005248778.1:p.Pro1143Leu
XM_005248722.4:c.3413C>T	XP_005248779.1:p.Ala1138Val
XM_005248724.4:c.3401C>T	XP_005248781.1:p.Pro1134Leu
XM_005248726.4:c.3344C>T	XP_005248783.1:p.Ala1115Val
XM_017010899.2:c.3374C>T	XP_016866388.1:p.Ala1125Val
XM_024446447.1:c.3467C>T	XP_024302215.1:p.Pro1156Leu
XM_024446448.1:c.3401C>T	XP_024302216.1:p.Ala1134Val
NM_004999.4:c.3440C>T MANE Select	NP_004990.3:p.Pro1147Leu
NM_001300899.2:c.3371C>T	NP_001287828.1:p.Pro1124Leu
NM_001368136.1:c.3344C>T	NP_001355065.1:p.Ala1115Val
NM_001368137.1:c.3401C>T	NP_001355066.1:p.Ala1134Val
NM_001368138.1:c.3356C>T	NP_001355067.1:p.Pro1119Leu
NM_001368865.1:c.3467C>T	NP_001355794.1:p.Pro1156Leu
NM_001368866.1:c.3440C>T	NP_001355795.1:p.Ala1147Val
NR_160538.1:n.3669C>T