Canonical Allele Identifier: CA16043305

Gene: TAF1

Linked Data

• ClinVar Variation Id: 372844
• ClinVar RCV Id: RCV000413668 ; RCV001027752 ; RCV001849367
• dbSNP Id: rs1057518019
• MyVariant Identifiers: chrX:g.70612531C>T (hg19) ; chrX:g.71392681C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71392681C>T , CM000685.2:g.71392681C>T	GRCh38
NC_000023.10:g.70612531C>T , CM000685.1:g.70612531C>T	GRCh37
NC_000023.9:g.70529256C>T	NCBI36
NG_012771.2:g.31418C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276072.9:c.2180C>T	ENSP00000276072.5:p.Ser727Phe
ENST00000683202.1:c.2894C>T	ENSP00000507781.1:p.Ser965Phe
ENST00000683668.1:c.2180C>T	ENSP00000507280.1:p.Ser727Phe
ENST00000683715.1:c.2475C>T
ENST00000683782.1:c.2894C>T	ENSP00000506996.1:p.Ser965Phe
ENST00000373790.9:c.2831C>T	ENSP00000362895.5:p.Ser944Phe
ENST00000423759.6:c.2894C>T MANE Select	ENSP00000406549.2:p.Ser965Phe
ENST00000276072.7:c.2954C>T	ENSP00000276072.3:p.Ser985Phe
ENST00000373790.8:c.2891C>T	ENSP00000362895.4:p.Ser964Phe
ENST00000423759.5:c.2954C>T	ENSP00000406549.1:p.Ser985Phe
NM_001286074.1:c.2954C>T	NP_001273003.1:p.Ser985Phe
NM_004606.4:c.2954C>T	NP_004597.2:p.Ser985Phe
NM_138923.3:c.2891C>T	NP_620278.1:p.Ser964Phe
NR_104387.1:n.3030C>T
NR_104388.1:n.3030C>T
NR_104389.1:n.3030C>T
NR_104390.1:n.3030C>T
NR_104391.1:n.3030C>T
NR_104392.1:n.3030C>T
NR_104393.1:n.3030C>T
NR_104394.1:n.3030C>T
NR_104395.1:n.3030C>T
XM_005262295.1:c.2954C>T	XP_005262352.1:p.Ser985Phe
XM_005262296.1:c.2954C>T	XP_005262353.1:p.Ser985Phe
XM_005262297.3:c.2891C>T	XP_005262354.1:p.Ser964Phe
XM_005262300.1:c.2954C>T	XP_005262357.1:p.Ser985Phe
XM_006724682.2:c.2573C>T	XP_006724745.1:p.Ser858Phe
XM_011531016.1:c.2954C>T	XP_011529318.1:p.Ser985Phe
XR_938407.1:n.2964C>T
XM_005262297.4:c.2891C>T	XP_005262354.1:p.Ser964Phe
XM_005262300.2:c.2954C>T	XP_005262357.1:p.Ser985Phe
XM_024452429.1:c.2573C>T	XP_024308197.1:p.Ser858Phe
XM_024452430.1:c.2954C>T	XP_024308198.1:p.Ser985Phe
NM_001286074.2:c.2894C>T	NP_001273003.2:p.Ser965Phe
NM_004606.5:c.2894C>T MANE Select	NP_004597.3:p.Ser965Phe
NM_138923.4:c.2831C>T	NP_620278.2:p.Ser944Phe
NR_104387.2:n.2912C>T
NR_104388.2:n.2912C>T
NR_104389.2:n.2912C>T
NR_104390.2:n.2912C>T
NR_104391.2:n.2912C>T
NR_104392.2:n.2912C>T
NR_104393.2:n.2912C>T
NR_104394.2:n.2912C>T
NR_104395.2:n.2912C>T