Canonical Allele Identifier: CA8960790

Gene: MYO5B

Linked Data

• dbSNP Id: rs778045982
• ExAC: 18:47405317 T / G
• gnomAD v2: 18-47405317-T-G
• gnomAD v4: 18-49878947-T-G
• MyVariant Identifiers: chr18:g.47405317T>G (hg19) ; chr18:g.49878947T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.49878947T>G , CM000680.2:g.49878947T>G	GRCh38
NC_000018.9:g.47405317T>G , CM000680.1:g.47405317T>G	GRCh37
NC_000018.8:g.45659315T>G	NCBI36
NG_012925.1:g.321135A>C
NG_012925.2:g.321135A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697218.1:n.28A>C
ENST00000697219.1:c.3071A>C
ENST00000285039.12:c.3274A>C MANE Select	ENSP00000285039.6:p.Lys1092Gln
ENST00000285039.11:c.3274A>C	ENSP00000285039.6:p.Lys1092Gln
ENST00000324581.10:c.703A>C	ENSP00000315531.7:p.Lys235Gln
ENST00000589568.1:n.475A>C
ENST00000616031.4:c.1907-42214A>C	ENSP00000479038.1:n.1907-42214A>C
NM_001080467.2:c.3274A>C	NP_001073936.1:p.Lys1092Gln
NM_001080467.3:c.3274A>C MANE Select	NP_001073936.1:p.Lys1092Gln