Canonical Allele Identifier: CA408562687

Gene: ASXL1

Linked Data

• dbSNP Id: rs1600591114
• MyVariant Identifiers: chr20:g.31023775A>C (hg19) ; chr20:g.32435972A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3260A>C MANE Select	ENSP00000364839.4:p.Tyr1087Ser
ENST00000646985.1:c.3077A>C	ENSP00000495053.1:p.Tyr1026Ser
ENST00000647223.1:n.5613A>C
ENST00000651418.1:c.1869+1391A>C	ENSP00000499150.1:n.1869+1391A>C
ENST00000306058.9:c.3245A>C	ENSP00000305119.5:p.Tyr1082Ser
ENST00000375687.8:c.3260A>C	ENSP00000364839.4:p.Tyr1087Ser
ENST00000613218.4:c.3260A>C	ENSP00000480487.1:p.Tyr1087Ser
ENST00000620121.4:c.3260A>C	ENSP00000481978.1:p.Tyr1087Ser
NM_015338.5:c.3260A>C , LRG_630t1:c.3260A>C	NP_056153.2:p.Tyr1087Ser
XM_006723727.2:c.3257A>C	XP_006723790.1:p.Tyr1086Ser
XM_006723728.2:c.3230A>C	XP_006723791.1:p.Tyr1077Ser
XM_006723730.2:c.3176A>C	XP_006723793.1:p.Tyr1059Ser
XM_006723732.2:c.3077A>C	XP_006723795.1:p.Tyr1026Ser
XM_006723733.1:c.2576A>C	XP_006723796.1:p.Tyr859Ser
XM_011528647.1:c.3524A>C	XP_011526949.1:p.Tyr1175Ser
XM_011528648.1:c.3521A>C	XP_011526950.1:p.Tyr1174Ser
XM_011528649.1:c.3440A>C	XP_011526951.1:p.Tyr1147Ser
XM_011528650.1:c.3371A>C	XP_011526952.1:p.Tyr1124Ser
XM_011528651.1:c.3239A>C	XP_011526953.1:p.Tyr1080Ser
XM_011528652.1:c.3176A>C	XP_011526954.1:p.Tyr1059Ser
NM_001363734.1:c.3077A>C	NP_001350663.1:p.Tyr1026Ser
XM_006723727.3:c.3257A>C	XP_006723790.1:p.Tyr1086Ser
XM_006723728.3:c.3230A>C	XP_006723791.1:p.Tyr1077Ser
XM_006723730.4:c.3176A>C	XP_006723793.1:p.Tyr1059Ser
XM_011528648.3:c.3521A>C	XP_011526950.1:p.Tyr1174Ser
XM_011528652.2:c.3176A>C	XP_011526954.1:p.Tyr1059Ser
XM_017027704.1:c.3176A>C	XP_016883193.1:p.Tyr1059Ser
XM_017027705.1:c.3176A>C	XP_016883194.1:p.Tyr1059Ser
XM_017027706.1:c.3107A>C	XP_016883195.1:p.Tyr1036Ser
NM_015338.6:c.3260A>C MANE Select	NP_056153.2:p.Tyr1087Ser