Canonical Allele Identifier: CA329136603
Community Standard Title: NM_014009.4(FOXP3):c.575C>T (p.Pro192Leu)
Gene: FOXP3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49256823G>A , CM000685.2:g.49256823G>A GRCh38
NC_000023.10:g.49113280G>A , CM000685.1:g.49113280G>A GRCh37
NC_000023.9:g.49000224G>A NCBI36
NG_007392.1:g.13009C>T , LRG_62:g.13009C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014009.4:c.575C>T MANE Select NP_054728.2:p.Pro192Leu
ENST00000376207.10:c.575C>T MANE Select ENSP00000365380.4:p.Pro192Leu
NM_001114377.1:c.470C>T NP_001107849.1:p.Pro157Leu
NM_001114377.2:c.470C>T NP_001107849.1:p.Pro157Leu
NM_014009.3:c.575C>T , LRG_62t1:c.575C>T NP_054728.2:p.Pro192Leu
ENST00000376197.1:c.425C>T ENSP00000365369.1:p.Pro142Leu
ENST00000376199.6:c.470C>T ENSP00000365372.2:p.Pro157Leu
ENST00000376199.7:c.470C>T ENSP00000365372.2:p.Pro157Leu
ENST00000376207.8:c.575C>T ENSP00000365380.4:p.Pro192Leu
ENST00000455775.6:c.644C>T ENSP00000396415.3:p.Pro215Leu
ENST00000455775.7:c.644C>T ENSP00000396415.3:p.Pro215Leu
ENST00000518685.5:c.470C>T ENSP00000428952.1:p.Pro157Leu
ENST00000518685.6:c.575C>T ENSP00000428952.2:p.Pro192Leu
ENST00000557224.5:c.470C>T ENSP00000451208.1:p.Pro157Leu
ENST00000557224.6:c.470C>T ENSP00000451208.1:p.Pro157Leu
ENST00000651307.1:c.575C>T ENSP00000498454.1:p.Pro192Leu
ENST00000652559.1:c.428C>T ENSP00000498236.1:p.Pro143Leu
XM_006724533.2:c.644C>T XP_006724596.2:p.Pro215Leu
XM_011543915.1:c.794C>T XP_011542217.1:p.Pro265Leu
XM_011543916.1:c.794C>T XP_011542218.1:p.Pro265Leu
XM_011543917.1:c.593C>T XP_011542219.1:p.Pro198Leu
XM_011543918.1:c.830C>T XP_011542220.1:p.Pro277Leu
XM_011543919.1:c.794C>T XP_011542221.1:p.Pro265Leu
XM_017029567.1:c.521C>T XP_016885056.1:p.Pro174Leu