Canonical Allele Identifier: CA402428678

Gene: MYO5B

Linked Data

• ClinVar Variation Id: 2794103
• ClinVar RCV Id: RCV003672630
• gnomAD v4: 18-49878953-T-C
• MyVariant Identifiers: chr18:g.47405323T>C (hg19) ; chr18:g.49878953T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.49878953T>C , CM000680.2:g.49878953T>C	GRCh38
NC_000018.9:g.47405323T>C , CM000680.1:g.47405323T>C	GRCh37
NC_000018.8:g.45659321T>C	NCBI36
NG_012925.1:g.321129A>G
NG_012925.2:g.321129A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697218.1:n.22A>G
ENST00000697219.1:c.3065A>G
ENST00000285039.12:c.3268A>G MANE Select	ENSP00000285039.6:p.Ile1090Val
ENST00000285039.11:c.3268A>G	ENSP00000285039.6:p.Ile1090Val
ENST00000324581.10:c.697A>G	ENSP00000315531.7:p.Ile233Val
ENST00000589568.1:n.469A>G
ENST00000616031.4:c.1907-42220A>G	ENSP00000479038.1:n.1907-42220A>G
NM_001080467.2:c.3268A>G	NP_001073936.1:p.Ile1090Val
NM_001080467.3:c.3268A>G MANE Select	NP_001073936.1:p.Ile1090Val