Canonical Allele Identifier: CA402426799

Gene: MYO5B

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.49853580G>A , CM000680.2:g.49853580G>A	GRCh38
NC_000018.9:g.47379950G>A , CM000680.1:g.47379950G>A	GRCh37
NC_000018.8:g.45633948G>A	NCBI36
NG_012925.1:g.346502C>T
NG_012925.2:g.346502C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697217.1:c.454C>T	ENSP00000513187.1:p.Gln152Ter
ENST00000697218.1:n.994C>T
ENST00000697219.1:c.3824C>T
ENST00000697220.1:n.346-3920C>T
ENST00000285039.12:c.4090C>T MANE Select	ENSP00000285039.6:p.Gln1364Ter
ENST00000285039.11:c.4090C>T	ENSP00000285039.6:p.Gln1364Ter
ENST00000324581.10:c.1441C>T	ENSP00000315531.7:p.Gln481Ter
ENST00000616031.4:c.1907-16847C>T	ENSP00000479038.1:n.1907-16847C>T
NM_001080467.2:c.4090C>T	NP_001073936.1:p.Gln1364Ter
NM_001080467.3:c.4090C>T MANE Select	NP_001073936.1:p.Gln1364Ter