Canonical Allele Identifier: CA7911589
Gene: MRTFB HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.14251922G>A , CM000678.2:g.14251922G>A GRCh38
NC_000016.9:g.14345779G>A , CM000678.1:g.14345779G>A GRCh37
NC_000016.8:g.14253280G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000571589.6:c.2464G>A MANE Select ENSP00000459626.2:p.Ala822Thr
ENST00000318282.9:c.2314G>A ENSP00000339086.4:p.Ala772Thr
ENST00000571589.5:c.2464G>A ENSP00000459626.1:p.Ala822Thr
ENST00000572588.1:n.1732G>A
ENST00000574045.5:c.2314G>A ENSP00000459205.1:p.Ala772Thr
NM_001308142.1:c.2464G>A NP_001295071.1:p.Ala822Thr
NM_014048.3:c.2314G>A NP_054767.3:p.Ala772Thr
NM_014048.4:c.2314G>A NP_054767.3:p.Ala772Thr
XM_005255452.2:c.2464G>A XP_005255509.1:p.Ala822Thr
XM_005255453.3:c.2464G>A XP_005255510.1:p.Ala822Thr
XM_005255455.2:c.2431G>A XP_005255512.1:p.Ala811Thr
XM_006720908.2:c.2464G>A XP_006720971.1:p.Ala822Thr
XM_006720909.2:c.2464G>A XP_006720972.1:p.Ala822Thr
XM_006720912.2:c.2377G>A XP_006720975.1:p.Ala793Thr
XM_006720913.1:c.2464G>A XP_006720976.1:p.Ala822Thr
XM_006720914.1:c.2314G>A XP_006720977.1:p.Ala772Thr
XM_011522568.1:c.2464G>A XP_011520870.1:p.Ala822Thr
XM_011522569.1:c.2251G>A XP_011520871.1:p.Ala751Thr
NM_001365411.1:c.2431G>A NP_001352340.1:p.Ala811Thr
NM_001365412.1:c.2464G>A NP_001352341.1:p.Ala822Thr
NM_001365413.1:c.2251G>A NP_001352342.1:p.Ala751Thr
NM_001365414.1:c.2101G>A NP_001352343.1:p.Ala701Thr
XM_005255452.3:c.2464G>A XP_005255509.1:p.Ala822Thr
XM_005255453.5:c.2464G>A XP_005255510.1:p.Ala822Thr
XM_006720908.4:c.2464G>A XP_006720971.1:p.Ala822Thr
XM_006720909.4:c.2464G>A XP_006720972.1:p.Ala822Thr
XM_006720912.4:c.2377G>A XP_006720975.1:p.Ala793Thr
XM_006720914.2:c.2314G>A XP_006720977.1:p.Ala772Thr
XM_011522568.2:c.2464G>A XP_011520870.1:p.Ala822Thr
XM_011522569.2:c.2251G>A XP_011520871.1:p.Ala751Thr
XM_017023501.2:c.2464G>A XP_016878990.1:p.Ala822Thr
XM_017023502.1:c.2464G>A XP_016878991.1:p.Ala822Thr
XM_017023503.2:c.2353G>A XP_016878992.1:p.Ala785Thr
XM_017023504.1:c.2281G>A XP_016878993.1:p.Ala761Thr
XM_017023505.2:c.2227G>A XP_016878994.1:p.Ala743Thr
NM_001308142.2:c.2464G>A MANE Select NP_001295071.1:p.Ala822Thr
NM_001365411.2:c.2431G>A NP_001352340.1:p.Ala811Thr
NM_001365412.2:c.2464G>A NP_001352341.1:p.Ala822Thr
NM_001365413.2:c.2251G>A NP_001352342.1:p.Ala751Thr
NM_001365414.2:c.2101G>A NP_001352343.1:p.Ala701Thr