Canonical Allele Identifier: CA364761287

Gene: MYO6

Linked Data

• gnomAD v4: 6-75914109-T-G
• MyVariant Identifiers: chr6:g.76623826T>G (hg19) ; chr6:g.75914109T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75914109T>G , CM000668.2:g.75914109T>G	GRCh38
NC_000006.11:g.76623826T>G , CM000668.1:g.76623826T>G	GRCh37
NC_000006.10:g.76680546T>G	NCBI36
NG_009934.1:g.169918T>G
NG_009934.2:g.169917T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369975.6:c.3390T>G	ENSP00000358992.1:p.Ile1130Met
ENST00000369977.8:c.3486T>G MANE Select	ENSP00000358994.3:p.Ile1162Met
ENST00000369985.9:c.3417T>G	ENSP00000359002.3:p.Ile1139Met
ENST00000664640.1:c.3513T>G	ENSP00000499278.1:p.Ile1171Met
ENST00000671923.1:c.*1497T>G	ENSP00000500835.1:n.*1497T>G
ENST00000672093.1:c.3486T>G	ENSP00000500710.1:p.Ile1162Met
ENST00000672162.1:n.1652T>G
ENST00000369975.5:c.3390T>G	ENSP00000358992.1:p.Ile1130Met
ENST00000369977.7:c.3486T>G	ENSP00000358994.3:p.Ile1162Met
ENST00000369981.7:c.3516T>G	ENSP00000358998.4:p.Ile1172Met
ENST00000369985.8:c.3417T>G	ENSP00000359002.3:p.Ile1139Met
ENST00000615563.4:c.3417T>G	ENSP00000478013.1:p.Ile1139Met
ENST00000627432.2:c.3513T>G	ENSP00000487348.1:p.Ile1171Met
NM_001300899.1:c.3417T>G	NP_001287828.1:p.Ile1139Met
NM_004999.3:c.3486T>G	NP_004990.3:p.Ile1162Met
XM_005248719.2:c.3513T>G	XP_005248776.1:p.Ile1171Met
XM_005248720.2:c.3486T>G	XP_005248777.1:p.Ile1162Met
XM_005248721.2:c.3474T>G	XP_005248778.1:p.Ile1158Met
XM_005248722.2:c.3459T>G	XP_005248779.1:p.Ile1153Met
XM_005248724.2:c.3447T>G	XP_005248781.1:p.Ile1149Met
XM_005248726.2:c.3390T>G	XP_005248783.1:p.Ile1130Met
XM_005248719.4:c.3513T>G	XP_005248776.1:p.Ile1171Met
XM_005248720.4:c.3486T>G	XP_005248777.1:p.Ile1162Met
XM_005248721.4:c.3474T>G	XP_005248778.1:p.Ile1158Met
XM_005248722.4:c.3459T>G	XP_005248779.1:p.Ile1153Met
XM_005248724.4:c.3447T>G	XP_005248781.1:p.Ile1149Met
XM_005248726.4:c.3390T>G	XP_005248783.1:p.Ile1130Met
XM_017010899.2:c.3420T>G	XP_016866388.1:p.Ile1140Met
XM_024446447.1:c.3513T>G	XP_024302215.1:p.Ile1171Met
XM_024446448.1:c.3447T>G	XP_024302216.1:p.Ile1149Met
NM_004999.4:c.3486T>G MANE Select	NP_004990.3:p.Ile1162Met
NM_001300899.2:c.3417T>G	NP_001287828.1:p.Ile1139Met
NM_001368136.1:c.3390T>G	NP_001355065.1:p.Ile1130Met
NM_001368137.1:c.3447T>G	NP_001355066.1:p.Ile1149Met
NM_001368138.1:c.3402T>G	NP_001355067.1:p.Ile1134Met
NM_001368865.1:c.3513T>G	NP_001355794.1:p.Ile1171Met
NM_001368866.1:c.3486T>G	NP_001355795.1:p.Ile1162Met
NR_160538.1:n.3715T>G