Canonical Allele Identifier: CA9808774

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 431709
• ClinVar RCV Id: RCV000655943 ; RCV002307523
• dbSNP Id: rs764651405
• ExAC: 20:31023717 C / T
• gnomAD v2: 20-31023717-C-T
• gnomAD v4: 20-32435914-C-T
• COSMIC: COSM41715 ; COSM5762833
• MyVariant Identifiers: chr20:g.31023717C>T (hg19) ; chr20:g.32435914C>T (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435914C>T , CM000682.2:g.32435914C>T	GRCh38
NC_000020.10:g.31023717C>T , CM000682.1:g.31023717C>T	GRCh37
NC_000020.9:g.30487378C>T	NCBI36
NG_027868.1:g.82571C>T , LRG_630:g.82571C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3202C>T MANE Select	ENSP00000364839.4:p.Arg1068Ter
ENST00000646985.1:c.3019C>T	ENSP00000495053.1:p.Arg1007Ter
ENST00000647223.1:n.5555C>T
ENST00000651418.1:c.1869+1333C>T	ENSP00000499150.1:n.1869+1333C>T
ENST00000306058.9:c.3187C>T	ENSP00000305119.5:p.Arg1063Ter
ENST00000375687.8:c.3202C>T	ENSP00000364839.4:p.Arg1068Ter
ENST00000613218.4:c.3202C>T	ENSP00000480487.1:p.Arg1068Ter
ENST00000620121.4:c.3202C>T	ENSP00000481978.1:p.Arg1068Ter
NM_015338.5:c.3202C>T , LRG_630t1:c.3202C>T	NP_056153.2:p.Arg1068Ter
XM_006723727.2:c.3199C>T	XP_006723790.1:p.Arg1067Ter
XM_006723728.2:c.3172C>T	XP_006723791.1:p.Arg1058Ter
XM_006723730.2:c.3118C>T	XP_006723793.1:p.Arg1040Ter
XM_006723732.2:c.3019C>T	XP_006723795.1:p.Arg1007Ter
XM_006723733.1:c.2518C>T	XP_006723796.1:p.Arg840Ter
XM_011528647.1:c.3466C>T	XP_011526949.1:p.Arg1156Ter
XM_011528648.1:c.3463C>T	XP_011526950.1:p.Arg1155Ter
XM_011528649.1:c.3382C>T	XP_011526951.1:p.Arg1128Ter
XM_011528650.1:c.3313C>T	XP_011526952.1:p.Arg1105Ter
XM_011528651.1:c.3181C>T	XP_011526953.1:p.Arg1061Ter
XM_011528652.1:c.3118C>T	XP_011526954.1:p.Arg1040Ter
NM_001363734.1:c.3019C>T	NP_001350663.1:p.Arg1007Ter
XM_006723727.3:c.3199C>T	XP_006723790.1:p.Arg1067Ter
XM_006723728.3:c.3172C>T	XP_006723791.1:p.Arg1058Ter
XM_006723730.4:c.3118C>T	XP_006723793.1:p.Arg1040Ter
XM_011528648.3:c.3463C>T	XP_011526950.1:p.Arg1155Ter
XM_011528652.2:c.3118C>T	XP_011526954.1:p.Arg1040Ter
XM_017027704.1:c.3118C>T	XP_016883193.1:p.Arg1040Ter
XM_017027705.1:c.3118C>T	XP_016883194.1:p.Arg1040Ter
XM_017027706.1:c.3049C>T	XP_016883195.1:p.Arg1017Ter
NM_015338.6:c.3202C>T MANE Select	NP_056153.2:p.Arg1068Ter