This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA9593262
Gene: MYH14 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50276116A>T , CM000681.2:g.50276116A>T GRCh38
NC_000019.9:g.50779373A>T , CM000681.1:g.50779373A>T GRCh37
NC_000019.8:g.55471185A>T NCBI36
NG_011645.1:g.77489A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000425460.6:c.3494A>T ENSP00000407879.1:p.Gln1165Leu
ENST00000642316.2:c.3593A>T MANE Select ENSP00000493594.1:p.Gln1198Leu
ENST00000262269.12:c.482A>T ENSP00000262269.9:p.Gln161Leu
ENST00000376970.6:c.3470A>T ENSP00000366169.3:p.Gln1157Leu
ENST00000425460.5:c.3494A>T ENSP00000407879.1:p.Gln1165Leu
ENST00000440075.6:c.-602A>T ENSP00000406273.3:n.-602A>T
ENST00000596571.5:c.3470A>T ENSP00000472819.1:p.Gln1157Leu
ENST00000598205.5:c.3494A>T ENSP00000472543.1:p.Gln1165Leu
ENST00000601313.5:c.3593A>T ENSP00000470298.1:p.Gln1198Leu
NM_001077186.1:c.3494A>T NP_001070654.1:p.Gln1165Leu
NM_001145809.1:c.3593A>T NP_001139281.1:p.Gln1198Leu
NM_024729.3:c.3470A>T NP_079005.3:p.Gln1157Leu
XM_006723386.2:c.3494A>T XP_006723449.1:p.Gln1165Leu
XM_011527320.1:c.3614A>T XP_011525622.1:p.Gln1205Leu
XM_011527321.1:c.3590A>T XP_011525623.1:p.Gln1197Leu
XM_011527322.1:c.3518A>T XP_011525624.1:p.Gln1173Leu
XM_011527323.1:c.3494A>T XP_011525625.1:p.Gln1165Leu
XM_006723386.4:c.3494A>T XP_006723449.1:p.Gln1165Leu
XM_011527320.2:c.3614A>T XP_011525622.1:p.Gln1205Leu
XM_011527321.2:c.3590A>T XP_011525623.1:p.Gln1197Leu
XM_011527323.2:c.3494A>T XP_011525625.1:p.Gln1165Leu
XM_024451721.1:c.3470A>T XP_024307489.1:p.Gln1157Leu
NM_001077186.2:c.3494A>T NP_001070654.1:p.Gln1165Leu
NM_001145809.2:c.3593A>T MANE Select NP_001139281.1:p.Gln1198Leu
NM_024729.4:c.3470A>T NP_079005.3:p.Gln1157Leu