Canonical Allele Identifier: CA402428660

Gene: MYO5B

Linked Data

• MyVariant Identifiers: chr18:g.47405315C>A (hg19) ; chr18:g.49878945C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.49878945C>A , CM000680.2:g.49878945C>A	GRCh38
NC_000018.9:g.47405315C>A , CM000680.1:g.47405315C>A	GRCh37
NC_000018.8:g.45659313C>A	NCBI36
NG_012925.1:g.321137G>T
NG_012925.2:g.321137G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697218.1:n.30G>T
ENST00000697219.1:c.3073G>T
ENST00000285039.12:c.3276G>T MANE Select	ENSP00000285039.6:p.Lys1092Asn
ENST00000285039.11:c.3276G>T	ENSP00000285039.6:p.Lys1092Asn
ENST00000324581.10:c.705G>T	ENSP00000315531.7:p.Lys235Asn
ENST00000589568.1:n.477G>T
ENST00000616031.4:c.1907-42212G>T	ENSP00000479038.1:n.1907-42212G>T
NM_001080467.2:c.3276G>T	NP_001073936.1:p.Lys1092Asn
NM_001080467.3:c.3276G>T MANE Select	NP_001073936.1:p.Lys1092Asn