Canonical Allele Identifier: CA364761984

Gene: MYO6

Linked Data

• gnomAD v4: 6-75914202-G-A
• MyVariant Identifiers: chr6:g.76623919G>A (hg19) ; chr6:g.75914202G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75914202G>A , CM000668.2:g.75914202G>A	GRCh38
NC_000006.11:g.76623919G>A , CM000668.1:g.76623919G>A	GRCh37
NC_000006.10:g.76680639G>A	NCBI36
NG_009934.1:g.170011G>A
NG_009934.2:g.170010G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369975.6:c.3483G>A	ENSP00000358992.1:p.Trp1161Ter
ENST00000369977.8:c.3579G>A MANE Select	ENSP00000358994.3:p.Trp1193Ter
ENST00000369985.9:c.3510G>A	ENSP00000359002.3:p.Trp1170Ter
ENST00000664640.1:c.3606G>A	ENSP00000499278.1:p.Trp1202Ter
ENST00000671923.1:c.*1590G>A	ENSP00000500835.1:n.*1590G>A
ENST00000672093.1:c.3579G>A	ENSP00000500710.1:p.Trp1193Ter
ENST00000672162.1:n.1745G>A
ENST00000369975.5:c.3483G>A	ENSP00000358992.1:p.Trp1161Ter
ENST00000369977.7:c.3579G>A	ENSP00000358994.3:p.Trp1193Ter
ENST00000369981.7:c.3609G>A	ENSP00000358998.4:p.Trp1203Ter
ENST00000369985.8:c.3510G>A	ENSP00000359002.3:p.Trp1170Ter
ENST00000615563.4:c.3510G>A	ENSP00000478013.1:p.Trp1170Ter
ENST00000627432.2:c.3606G>A	ENSP00000487348.1:p.Trp1202Ter
NM_001300899.1:c.3510G>A	NP_001287828.1:p.Trp1170Ter
NM_004999.3:c.3579G>A	NP_004990.3:p.Trp1193Ter
XM_005248719.2:c.3606G>A	XP_005248776.1:p.Trp1202Ter
XM_005248720.2:c.3579G>A	XP_005248777.1:p.Trp1193Ter
XM_005248721.2:c.3567G>A	XP_005248778.1:p.Trp1189Ter
XM_005248722.2:c.3552G>A	XP_005248779.1:p.Trp1184Ter
XM_005248724.2:c.3540G>A	XP_005248781.1:p.Trp1180Ter
XM_005248726.2:c.3483G>A	XP_005248783.1:p.Trp1161Ter
XM_005248719.4:c.3606G>A	XP_005248776.1:p.Trp1202Ter
XM_005248720.4:c.3579G>A	XP_005248777.1:p.Trp1193Ter
XM_005248721.4:c.3567G>A	XP_005248778.1:p.Trp1189Ter
XM_005248722.4:c.3552G>A	XP_005248779.1:p.Trp1184Ter
XM_005248724.4:c.3540G>A	XP_005248781.1:p.Trp1180Ter
XM_005248726.4:c.3483G>A	XP_005248783.1:p.Trp1161Ter
XM_017010899.2:c.3513G>A	XP_016866388.1:p.Trp1171Ter
XM_024446447.1:c.3606G>A	XP_024302215.1:p.Trp1202Ter
XM_024446448.1:c.3540G>A	XP_024302216.1:p.Trp1180Ter
NM_004999.4:c.3579G>A MANE Select	NP_004990.3:p.Trp1193Ter
NM_001300899.2:c.3510G>A	NP_001287828.1:p.Trp1170Ter
NM_001368136.1:c.3483G>A	NP_001355065.1:p.Trp1161Ter
NM_001368137.1:c.3540G>A	NP_001355066.1:p.Trp1180Ter
NM_001368138.1:c.3495G>A	NP_001355067.1:p.Trp1165Ter
NM_001368865.1:c.3606G>A	NP_001355794.1:p.Trp1202Ter
NM_001368866.1:c.3579G>A	NP_001355795.1:p.Trp1193Ter
NR_160538.1:n.3808G>A