Canonical Allele Identifier: CA10624653

Gene: MYO6

Linked Data

• ClinVar Variation Id: 358015
• ClinVar RCV Id: RCV000262920 ; RCV000357690
• dbSNP Id: rs74367845
• gnomAD v2: 6-76626198-G-T
• gnomAD v3: 6-75916481-G-T
• gnomAD v4: 6-75916481-G-T
• MyVariant Identifiers: chr6:g.76626198G>T (hg19) ; chr6:g.75916481G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75916481G>T , CM000668.2:g.75916481G>T	GRCh38
NC_000006.11:g.76626198G>T , CM000668.1:g.76626198G>T	GRCh37
NC_000006.10:g.76682918G>T	NCBI36
NG_009934.1:g.172290G>T
NG_009934.2:g.172289G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369975.6:c.*1469G>T	ENSP00000358992.1:n.*1469G>T
ENST00000369977.8:c.*1469G>T MANE Select	ENSP00000358994.3:n.*1469G>T
ENST00000369985.9:c.*1469G>T	ENSP00000359002.3:n.*1469G>T
ENST00000664640.1:c.*1469G>T	ENSP00000499278.1:n.*1469G>T
ENST00000369975.5:c.*1469G>T	ENSP00000358992.1:n.*1469G>T
ENST00000369977.7:c.*1469G>T	ENSP00000358994.3:n.*1469G>T
ENST00000369981.7:c.*1469G>T	ENSP00000358998.4:n.*1469G>T
ENST00000369985.8:c.*1469G>T	ENSP00000359002.3:n.*1469G>T
NM_001300899.1:c.*1469G>T	NP_001287828.1:n.*1469G>T
NM_004999.3:c.*1469G>T	NP_004990.3:n.*1469G>T
XM_005248719.4:c.*1469G>T	XP_005248776.1:n.*1469G>T
XM_005248720.4:c.*1469G>T	XP_005248777.1:n.*1469G>T
XM_005248721.4:c.*1469G>T	XP_005248778.1:n.*1469G>T
XM_005248722.4:c.*1469G>T	XP_005248779.1:n.*1469G>T
XM_005248724.4:c.*1469G>T	XP_005248781.1:n.*1469G>T
XM_005248726.4:c.*1469G>T	XP_005248783.1:n.*1469G>T
XM_017010899.2:c.*1469G>T	XP_016866388.1:n.*1469G>T
XM_024446447.1:c.*1469G>T	XP_024302215.1:n.*1469G>T
XM_024446448.1:c.*1469G>T	XP_024302216.1:n.*1469G>T
NM_004999.4:c.*1469G>T MANE Select	NP_004990.3:n.*1469G>T
NM_001300899.2:c.*1469G>T	NP_001287828.1:n.*1469G>T
NM_001368136.1:c.*1469G>T	NP_001355065.1:n.*1469G>T
NM_001368137.1:c.*1469G>T	NP_001355066.1:n.*1469G>T
NM_001368138.1:c.*1469G>T	NP_001355067.1:n.*1469G>T
NM_001368865.1:c.*1469G>T	NP_001355794.1:n.*1469G>T
NM_001368866.1:c.*1469G>T	NP_001355795.1:n.*1469G>T
NR_160538.1:n.5556G>T