Canonical Allele Identifier: CA503860969

Gene: MYO5B

Linked Data

• MyVariant Identifiers: chr18:g.47405321G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.49878951G>A , CM000680.2:g.49878951G>A	GRCh38
NC_000018.9:g.47405321G>A , CM000680.1:g.47405321G>A	GRCh37
NC_000018.8:g.45659319G>A	NCBI36
NG_012925.1:g.321131C>T
NG_012925.2:g.321131C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697218.1:n.24C>T
ENST00000697219.1:c.3067C>T
ENST00000285039.12:c.3270C>T MANE Select	ENSP00000285039.6:p.Ile1090=
ENST00000285039.11:c.3270C>T	ENSP00000285039.6:p.Ile1090=
ENST00000324581.10:c.699C>T	ENSP00000315531.7:p.Ile233=
ENST00000589568.1:n.471C>T
ENST00000616031.4:c.1907-42218C>T	ENSP00000479038.1:n.1907-42218C>T
NM_001080467.2:c.3270C>T	NP_001073936.1:p.Ile1090=
NM_001080467.3:c.3270C>T MANE Select	NP_001073936.1:p.Ile1090=