Canonical Allele Identifier: CA413531898

Gene: TAF1

Linked Data

• ClinVar Variation Id: 2573825
• ClinVar RCV Id: RCV003318161
• COSMIC: COSM1124911 ; COSM1155475
• MyVariant Identifiers: chrX:g.70618502G>A (hg19) ; chrX:g.71398652G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71398652G>A , CM000685.2:g.71398652G>A	GRCh38
NC_000023.10:g.70618502G>A , CM000685.1:g.70618502G>A	GRCh37
NC_000023.9:g.70535227G>A	NCBI36
NG_012771.2:g.37389G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276072.9:c.2987G>A	ENSP00000276072.5:p.Arg996Gln
ENST00000483985.3:c.616G>A
ENST00000683202.1:c.3701G>A	ENSP00000507781.1:p.Arg1234Gln
ENST00000683668.1:c.2987G>A	ENSP00000507280.1:p.Arg996Gln
ENST00000683782.1:c.3701G>A	ENSP00000506996.1:p.Arg1234Gln
ENST00000276072.8:c.295G>A
ENST00000373790.9:c.3638G>A	ENSP00000362895.5:p.Arg1213Gln
ENST00000423759.6:c.3701G>A MANE Select	ENSP00000406549.2:p.Arg1234Gln
ENST00000276072.7:c.3761G>A	ENSP00000276072.3:p.Arg1254Gln
ENST00000373790.8:c.3698G>A	ENSP00000362895.4:p.Arg1233Gln
ENST00000423759.5:c.3761G>A	ENSP00000406549.1:p.Arg1254Gln
ENST00000483985.2:c.430G>A
NM_001286074.1:c.3761G>A	NP_001273003.1:p.Arg1254Gln
NM_004606.4:c.3761G>A	NP_004597.2:p.Arg1254Gln
NM_138923.3:c.3698G>A	NP_620278.1:p.Arg1233Gln
NR_104387.1:n.3837G>A
NR_104388.1:n.3837G>A
NR_104389.1:n.3837G>A
NR_104390.1:n.3837G>A
NR_104391.1:n.3837G>A
NR_104392.1:n.3837G>A
NR_104393.1:n.3837G>A
NR_104394.1:n.3837G>A
NR_104395.1:n.3837G>A
XM_005262295.1:c.3761G>A	XP_005262352.1:p.Arg1254Gln
XM_005262296.1:c.3758G>A	XP_005262353.1:p.Arg1253Gln
XM_005262297.3:c.3698G>A	XP_005262354.1:p.Arg1233Gln
XM_006724682.2:c.3380G>A	XP_006724745.1:p.Arg1127Gln
XM_011531016.1:c.3761G>A	XP_011529318.1:p.Arg1254Gln
XR_938407.1:n.3771G>A
XM_005262297.4:c.3698G>A	XP_005262354.1:p.Arg1233Gln
XM_024452429.1:c.3380G>A	XP_024308197.1:p.Arg1127Gln
XM_024452430.1:c.3761G>A	XP_024308198.1:p.Arg1254Gln
NM_001286074.2:c.3701G>A	NP_001273003.2:p.Arg1234Gln
NM_004606.5:c.3701G>A MANE Select	NP_004597.3:p.Arg1234Gln
NM_138923.4:c.3638G>A	NP_620278.2:p.Arg1213Gln
NR_104387.2:n.3719G>A
NR_104388.2:n.3719G>A
NR_104389.2:n.3719G>A
NR_104390.2:n.3719G>A
NR_104391.2:n.3719G>A
NR_104392.2:n.3719G>A
NR_104393.2:n.3719G>A
NR_104394.2:n.3719G>A
NR_104395.2:n.3719G>A