Canonical Allele Identifier: CA408562686

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31023775A>T (hg19) ; chr20:g.32435972A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435972A>T , CM000682.2:g.32435972A>T	GRCh38
NC_000020.10:g.31023775A>T , CM000682.1:g.31023775A>T	GRCh37
NC_000020.9:g.30487436A>T	NCBI36
NG_027868.1:g.82629A>T , LRG_630:g.82629A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3260A>T MANE Select	ENSP00000364839.4:p.Tyr1087Phe
ENST00000646985.1:c.3077A>T	ENSP00000495053.1:p.Tyr1026Phe
ENST00000647223.1:n.5613A>T
ENST00000651418.1:c.1869+1391A>T	ENSP00000499150.1:n.1869+1391A>T
ENST00000306058.9:c.3245A>T	ENSP00000305119.5:p.Tyr1082Phe
ENST00000375687.8:c.3260A>T	ENSP00000364839.4:p.Tyr1087Phe
ENST00000613218.4:c.3260A>T	ENSP00000480487.1:p.Tyr1087Phe
ENST00000620121.4:c.3260A>T	ENSP00000481978.1:p.Tyr1087Phe
NM_015338.5:c.3260A>T , LRG_630t1:c.3260A>T	NP_056153.2:p.Tyr1087Phe
XM_006723727.2:c.3257A>T	XP_006723790.1:p.Tyr1086Phe
XM_006723728.2:c.3230A>T	XP_006723791.1:p.Tyr1077Phe
XM_006723730.2:c.3176A>T	XP_006723793.1:p.Tyr1059Phe
XM_006723732.2:c.3077A>T	XP_006723795.1:p.Tyr1026Phe
XM_006723733.1:c.2576A>T	XP_006723796.1:p.Tyr859Phe
XM_011528647.1:c.3524A>T	XP_011526949.1:p.Tyr1175Phe
XM_011528648.1:c.3521A>T	XP_011526950.1:p.Tyr1174Phe
XM_011528649.1:c.3440A>T	XP_011526951.1:p.Tyr1147Phe
XM_011528650.1:c.3371A>T	XP_011526952.1:p.Tyr1124Phe
XM_011528651.1:c.3239A>T	XP_011526953.1:p.Tyr1080Phe
XM_011528652.1:c.3176A>T	XP_011526954.1:p.Tyr1059Phe
NM_001363734.1:c.3077A>T	NP_001350663.1:p.Tyr1026Phe
XM_006723727.3:c.3257A>T	XP_006723790.1:p.Tyr1086Phe
XM_006723728.3:c.3230A>T	XP_006723791.1:p.Tyr1077Phe
XM_006723730.4:c.3176A>T	XP_006723793.1:p.Tyr1059Phe
XM_011528648.3:c.3521A>T	XP_011526950.1:p.Tyr1174Phe
XM_011528652.2:c.3176A>T	XP_011526954.1:p.Tyr1059Phe
XM_017027704.1:c.3176A>T	XP_016883193.1:p.Tyr1059Phe
XM_017027705.1:c.3176A>T	XP_016883194.1:p.Tyr1059Phe
XM_017027706.1:c.3107A>T	XP_016883195.1:p.Tyr1036Phe
NM_015338.6:c.3260A>T MANE Select	NP_056153.2:p.Tyr1087Phe