Canonical Allele Identifier: CA10446567
Community Standard Title: NM_004606.5(TAF1):c.428C>T (p.Pro143Leu)
Gene: TAF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71375242C>T , CM000685.2:g.71375242C>T GRCh38
NC_000023.10:g.70595092C>T , CM000685.1:g.70595092C>T GRCh37
NC_000023.9:g.70511817C>T NCBI36
NG_012771.2:g.13979C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004606.5:c.428C>T MANE Select NP_004597.3:p.Pro143Leu
ENST00000423759.6:c.428C>T MANE Select ENSP00000406549.2:p.Pro143Leu
NM_001286074.1:c.488C>T NP_001273003.1:p.Pro163Leu
NM_001286074.2:c.428C>T NP_001273003.2:p.Pro143Leu
NM_004606.4:c.488C>T NP_004597.2:p.Pro163Leu
NM_138923.3:c.488C>T NP_620278.1:p.Pro163Leu
NM_138923.4:c.428C>T NP_620278.2:p.Pro143Leu
NR_104387.1:n.564C>T
NR_104387.2:n.446C>T
NR_104388.1:n.564C>T
NR_104388.2:n.446C>T
NR_104389.1:n.564C>T
NR_104389.2:n.446C>T
NR_104390.1:n.564C>T
NR_104390.2:n.446C>T
NR_104391.1:n.564C>T
NR_104391.2:n.446C>T
NR_104392.1:n.564C>T
NR_104392.2:n.446C>T
NR_104393.1:n.564C>T
NR_104393.2:n.446C>T
NR_104394.1:n.564C>T
NR_104394.2:n.446C>T
NR_104395.1:n.564C>T
NR_104395.2:n.446C>T
ENST00000276072.7:c.488C>T ENSP00000276072.3:p.Pro163Leu
ENST00000373790.8:c.488C>T ENSP00000362895.4:p.Pro163Leu
ENST00000373790.9:c.428C>T ENSP00000362895.5:p.Pro143Leu
ENST00000423759.5:c.488C>T ENSP00000406549.1:p.Pro163Leu
ENST00000483365.2:n.539C>T
ENST00000683202.1:c.428C>T ENSP00000507781.1:p.Pro143Leu
ENST00000683352.1:n.498C>T
ENST00000683715.1:c.9C>T
ENST00000683782.1:c.428C>T ENSP00000506996.1:p.Pro143Leu
XM_005262295.1:c.488C>T XP_005262352.1:p.Pro163Leu
XM_005262296.1:c.488C>T XP_005262353.1:p.Pro163Leu
XM_005262297.3:c.488C>T XP_005262354.1:p.Pro163Leu
XM_005262297.4:c.488C>T XP_005262354.1:p.Pro163Leu
XM_005262300.1:c.488C>T XP_005262357.1:p.Pro163Leu
XM_005262300.2:c.488C>T XP_005262357.1:p.Pro163Leu
XM_006724682.2:c.107C>T XP_006724745.1:p.Pro36Leu
XM_011531016.1:c.488C>T XP_011529318.1:p.Pro163Leu
XM_024452429.1:c.107C>T XP_024308197.1:p.Pro36Leu
XM_024452430.1:c.488C>T XP_024308198.1:p.Pro163Leu
XR_938407.1:n.498C>T