Canonical Allele Identifier: CA364761921

Gene: MYO6

Linked Data

• gnomAD v4: 6-75914189-A-C
• COSMIC: COSM421231
• MyVariant Identifiers: chr6:g.76623906A>C (hg19) ; chr6:g.75914189A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75914189A>C , CM000668.2:g.75914189A>C	GRCh38
NC_000006.11:g.76623906A>C , CM000668.1:g.76623906A>C	GRCh37
NC_000006.10:g.76680626A>C	NCBI36
NG_009934.1:g.169998A>C
NG_009934.2:g.169997A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369975.6:c.3470A>C	ENSP00000358992.1:p.Lys1157Thr
ENST00000369977.8:c.3566A>C MANE Select	ENSP00000358994.3:p.Lys1189Thr
ENST00000369985.9:c.3497A>C	ENSP00000359002.3:p.Lys1166Thr
ENST00000664640.1:c.3593A>C	ENSP00000499278.1:p.Lys1198Thr
ENST00000671923.1:c.*1577A>C	ENSP00000500835.1:n.*1577A>C
ENST00000672093.1:c.3566A>C	ENSP00000500710.1:p.Lys1189Thr
ENST00000672162.1:n.1732A>C
ENST00000369975.5:c.3470A>C	ENSP00000358992.1:p.Lys1157Thr
ENST00000369977.7:c.3566A>C	ENSP00000358994.3:p.Lys1189Thr
ENST00000369981.7:c.3596A>C	ENSP00000358998.4:p.Lys1199Thr
ENST00000369985.8:c.3497A>C	ENSP00000359002.3:p.Lys1166Thr
ENST00000615563.4:c.3497A>C	ENSP00000478013.1:p.Lys1166Thr
ENST00000627432.2:c.3593A>C	ENSP00000487348.1:p.Lys1198Thr
NM_001300899.1:c.3497A>C	NP_001287828.1:p.Lys1166Thr
NM_004999.3:c.3566A>C	NP_004990.3:p.Lys1189Thr
XM_005248719.2:c.3593A>C	XP_005248776.1:p.Lys1198Thr
XM_005248720.2:c.3566A>C	XP_005248777.1:p.Lys1189Thr
XM_005248721.2:c.3554A>C	XP_005248778.1:p.Lys1185Thr
XM_005248722.2:c.3539A>C	XP_005248779.1:p.Lys1180Thr
XM_005248724.2:c.3527A>C	XP_005248781.1:p.Lys1176Thr
XM_005248726.2:c.3470A>C	XP_005248783.1:p.Lys1157Thr
XM_005248719.4:c.3593A>C	XP_005248776.1:p.Lys1198Thr
XM_005248720.4:c.3566A>C	XP_005248777.1:p.Lys1189Thr
XM_005248721.4:c.3554A>C	XP_005248778.1:p.Lys1185Thr
XM_005248722.4:c.3539A>C	XP_005248779.1:p.Lys1180Thr
XM_005248724.4:c.3527A>C	XP_005248781.1:p.Lys1176Thr
XM_005248726.4:c.3470A>C	XP_005248783.1:p.Lys1157Thr
XM_017010899.2:c.3500A>C	XP_016866388.1:p.Lys1167Thr
XM_024446447.1:c.3593A>C	XP_024302215.1:p.Lys1198Thr
XM_024446448.1:c.3527A>C	XP_024302216.1:p.Lys1176Thr
NM_004999.4:c.3566A>C MANE Select	NP_004990.3:p.Lys1189Thr
NM_001300899.2:c.3497A>C	NP_001287828.1:p.Lys1166Thr
NM_001368136.1:c.3470A>C	NP_001355065.1:p.Lys1157Thr
NM_001368137.1:c.3527A>C	NP_001355066.1:p.Lys1176Thr
NM_001368138.1:c.3482A>C	NP_001355067.1:p.Lys1161Thr
NM_001368865.1:c.3593A>C	NP_001355794.1:p.Lys1198Thr
NM_001368866.1:c.3566A>C	NP_001355795.1:p.Lys1189Thr
NR_160538.1:n.3795A>C