Canonical Allele Identifier: CA377505811
Community Standard Title: NM_000043.6(FAS):c.20T>C (p.Leu7Pro)
Gene: ACTA2 HGNC NCBI
FAS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88990896T>C , CM000672.2:g.88990896T>C GRCh38
NC_000010.10:g.90750653T>C , CM000672.1:g.90750653T>C GRCh37
NC_000010.9:g.90740633T>C NCBI36
NG_009089.2:g.5366T>C , LRG_134:g.5366T>C
NG_011541.1:g.5495A>G , LRG_781:g.5495A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000043.6:c.20T>C (FAS) MANE Select NP_000034.1:p.Leu7Pro
ENST00000652046.1:c.20T>C (FAS) MANE Select ENSP00000498466.1:p.Leu7Pro
NM_000043.4:c.20T>C , LRG_134t1:c.20T>C (FAS) NP_000034.1:p.Leu7Pro
NM_000043.5:c.20T>C (FAS) NP_000034.1:p.Leu7Pro
NM_001141945.1:c.-24+43A>G , LRG_781t2:c.-24+43A>G (ACTA2) NP_001135417.1:n.-24+43A>G
NM_001141945.2:c.-24+43A>G (ACTA2) NP_001135417.1:n.-24+43A>G
NM_001320619.1:c.20T>C (FAS) NP_001307548.1:p.Leu7Pro
NM_001320619.2:c.20T>C (FAS) NP_001307548.1:p.Leu7Pro
NM_001320855.1:c.-24+126A>G (ACTA2) NP_001307784.1:n.-24+126A>G
NM_152871.2:c.20T>C (FAS) NP_690610.1:p.Leu7Pro
NM_152871.3:c.20T>C (FAS) NP_690610.1:p.Leu7Pro
NM_152871.4:c.20T>C (FAS) NP_690610.1:p.Leu7Pro
NM_152872.2:c.20T>C (FAS) NP_690611.1:p.Leu7Pro
NM_152872.3:c.20T>C (FAS) NP_690611.1:p.Leu7Pro
NM_152872.4:c.20T>C (FAS) NP_690611.1:p.Leu7Pro
NR_028033.2:n.366T>C (FAS)
NR_028033.3:n.338T>C (FAS)
NR_028033.4:n.99T>C (FAS)
NR_028034.2:n.366T>C (FAS)
NR_028034.3:n.338T>C (FAS)
NR_028034.4:n.99T>C (FAS)
NR_028035.2:n.366T>C (FAS)
NR_028035.3:n.338T>C (FAS)
NR_028035.4:n.99T>C (FAS)
NR_028036.2:n.366T>C (FAS)
NR_028036.3:n.338T>C (FAS)
NR_028036.4:n.99T>C (FAS)
NR_135313.1:n.338T>C (FAS)
NR_135313.2:n.99T>C (FAS)
ENST00000352159.8:c.20T>C (FAS) ENSP00000345601.4:p.Leu7Pro
ENST00000355279.2:c.20T>C (FAS) ENSP00000347426.2:p.Leu7Pro
ENST00000355740.6:c.20T>C (FAS) ENSP00000347979.2:p.Leu7Pro
ENST00000355740.7:c.20T>C (FAS) ENSP00000347979.3:p.Leu7Pro
ENST00000355740.8:c.20T>C (FAS) ENSP00000347979.3:p.Leu7Pro
ENST00000357339.6:c.20T>C (FAS) ENSP00000349896.2:p.Leu7Pro
ENST00000357339.7:c.20T>C (FAS) ENSP00000349896.2:p.Leu7Pro
ENST00000415557.1:c.-24+43A>G (ACTA2) ENSP00000396730.1:n.-24+43A>G
ENST00000415557.2:c.-24+43A>G (ACTA2) ENSP00000396730.2:n.-24+43A>G
ENST00000458159.5:c.-24+126A>G (ACTA2) ENSP00000398239.1:n.-24+126A>G
ENST00000458159.6:c.-24+126A>G (ACTA2) ENSP00000398239.2:n.-24+126A>G
ENST00000458208.5:c.-24+43A>G (ACTA2) ENSP00000402373.1:n.-24+43A>G
ENST00000479522.5:c.20T>C (FAS) ENSP00000424113.1:p.Leu7Pro
ENST00000479522.6:c.20T>C (FAS) ENSP00000424113.1:p.Leu7Pro
ENST00000484444.5:c.20T>C (FAS) ENSP00000420975.1:p.Leu7Pro
ENST00000484444.6:c.20T>C (FAS) ENSP00000420975.1:p.Leu7Pro
ENST00000488877.5:c.20T>C (FAS) ENSP00000425159.1:p.Leu7Pro
ENST00000488877.6:c.20T>C (FAS) ENSP00000425159.1:p.Leu7Pro
ENST00000492756.5:c.20T>C (FAS) ENSP00000422453.1:p.Leu7Pro
ENST00000492756.7:c.20T>C (FAS) ENSP00000422453.1:p.Leu7Pro
ENST00000494410.5:c.20T>C (FAS) ENSP00000423755.1:p.Leu7Pro
ENST00000562983.2:n.99T>C (FAS)
ENST00000562983.3:c.-805T>C (FAS) ENSP00000512845.1:n.-805T>C
ENST00000612663.4:c.20T>C (FAS) ENSP00000477997.2:p.Leu7Pro
ENST00000612663.5:c.20T>C (FAS) ENSP00000477997.3:p.Leu7Pro
ENST00000612663.6:c.20T>C (FAS) ENSP00000477997.3:p.Leu7Pro
ENST00000615406.4:c.20T>C (FAS) ENSP00000484575.1:p.Leu7Pro
ENST00000626542.2:c.20T>C (FAS) ENSP00000485876.1:p.Leu7Pro
ENST00000690268.1:c.111+1317T>C (FAS) ENSP00000509810.1:n.111+1317T>C
ENST00000696723.1:n.3663+1317T>C (FAS)
ENST00000696741.1:n.323T>C (FAS)
ENST00000696742.1:n.202T>C (FAS)
ENST00000696743.1:n.192T>C (FAS)
ENST00000696767.1:n.202T>C (FAS)
ENST00000696768.1:c.20T>C (FAS) ENSP00000512859.1:p.Leu7Pro
ENST00000696774.1:n.242T>C (FAS)
ENST00000696775.1:n.202T>C (FAS)
ENST00000696776.1:c.20T>C (FAS) ENSP00000512861.1:p.Leu7Pro
ENST00000696777.1:n.202T>C (FAS)
ENST00000696778.1:n.202T>C (FAS)
ENST00000696779.1:c.20T>C (FAS) ENSP00000512862.1:p.Leu7Pro
ENST00000696780.1:c.20T>C (FAS) ENSP00000512863.1:p.Leu7Pro
ENST00000696781.1:c.20T>C (FAS) ENSP00000512864.1:p.Leu7Pro
ENST00000696782.1:c.20T>C (FAS) ENSP00000512865.1:p.Leu7Pro
ENST00000696992.1:n.1147+1317T>C (FAS)
ENST00000696993.1:n.202T>C (FAS)
ENST00000696994.1:n.202T>C (FAS)
ENST00000696995.1:n.202T>C (FAS)
ENST00000696996.1:n.201T>C (FAS)
ENST00000696997.1:c.20T>C (FAS) ENSP00000513028.1:p.Leu7Pro
ENST00000697035.1:c.20T>C (FAS) ENSP00000513059.1:p.Leu7Pro
ENST00000697036.1:c.20T>C (FAS) ENSP00000513060.1:p.Leu7Pro
ENST00000697093.1:n.244T>C (FAS)
ENST00000697094.1:n.159T>C (FAS)
ENST00000697095.1:c.20T>C (FAS) ENSP00000513104.1:p.Leu7Pro
ENST00000697096.1:n.76T>C (FAS)
XM_006717819.2:c.111+1317T>C (FAS) XP_006717882.1:n.111+1317T>C
XM_006717819.3:c.111+1317T>C (FAS) XP_006717882.1:n.111+1317T>C
XM_011539764.1:c.192+1317T>C (FAS) XP_011538066.1:n.192+1317T>C
XM_011539764.2:c.192+1317T>C (FAS) XP_011538066.1:n.192+1317T>C
XM_011539765.1:c.192+1317T>C (FAS) XP_011538067.1:n.192+1317T>C
XM_011539765.2:c.192+1317T>C (FAS) XP_011538067.1:n.192+1317T>C
XM_011539766.1:c.111+1317T>C (FAS) XP_011538068.1:n.111+1317T>C
XM_011539766.2:c.111+1317T>C (FAS) XP_011538068.1:n.111+1317T>C
XM_011540016.1:c.-24+126A>G (ACTA2) XP_011538318.1:n.-24+126A>G
XR_945732.1:n.207+1317T>C (FAS)
XR_945732.3:n.207+1317T>C (FAS)
XR_945733.1:n.207+1317T>C (FAS)
XR_945733.2:n.207+1317T>C (FAS)
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