Canonical Allele Identifier: CA402428676

Gene: MYO5B

Linked Data

• MyVariant Identifiers: chr18:g.47405322A>T (hg19) ; chr18:g.49878952A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.49878952A>T , CM000680.2:g.49878952A>T	GRCh38
NC_000018.9:g.47405322A>T , CM000680.1:g.47405322A>T	GRCh37
NC_000018.8:g.45659320A>T	NCBI36
NG_012925.1:g.321130T>A
NG_012925.2:g.321130T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697218.1:n.23T>A
ENST00000697219.1:c.3066T>A
ENST00000285039.12:c.3269T>A MANE Select	ENSP00000285039.6:p.Ile1090Asn
ENST00000285039.11:c.3269T>A	ENSP00000285039.6:p.Ile1090Asn
ENST00000324581.10:c.698T>A	ENSP00000315531.7:p.Ile233Asn
ENST00000589568.1:n.470T>A
ENST00000616031.4:c.1907-42219T>A	ENSP00000479038.1:n.1907-42219T>A
NM_001080467.2:c.3269T>A	NP_001073936.1:p.Ile1090Asn
NM_001080467.3:c.3269T>A MANE Select	NP_001073936.1:p.Ile1090Asn