Canonical Allele Identifier: CA9808924

Gene: ASXL1

Linked Data

• dbSNP Id: rs781438363
• ExAC: 20:31024427 T / C
• gnomAD v2: 20-31024427-T-C
• gnomAD v3: 20-32436624-T-C
• gnomAD v4: 20-32436624-T-C
• MyVariant Identifiers: chr20:g.31024427T>C (hg19) ; chr20:g.32436624T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436624T>C , CM000682.2:g.32436624T>C	GRCh38
NC_000020.10:g.31024427T>C , CM000682.1:g.31024427T>C	GRCh37
NC_000020.9:g.30488088T>C	NCBI36
NG_027868.1:g.83281T>C , LRG_630:g.83281T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3912T>C MANE Select	ENSP00000364839.4:p.Leu1304=
ENST00000646985.1:c.3729T>C	ENSP00000495053.1:p.Leu1243=
ENST00000647223.1:n.6265T>C
ENST00000651418.1:c.1870-1806T>C	ENSP00000499150.1:n.1870-1806T>C
ENST00000306058.9:c.3897T>C	ENSP00000305119.5:p.Leu1299=
ENST00000375687.8:c.3912T>C	ENSP00000364839.4:p.Leu1304=
ENST00000613218.4:c.3912T>C	ENSP00000480487.1:p.Leu1304=
ENST00000620121.4:c.3912T>C	ENSP00000481978.1:p.Leu1304=
NM_015338.5:c.3912T>C , LRG_630t1:c.3912T>C	NP_056153.2:p.Leu1304=
XM_006723727.2:c.3909T>C	XP_006723790.1:p.Leu1303=
XM_006723728.2:c.3882T>C	XP_006723791.1:p.Leu1294=
XM_006723730.2:c.3828T>C	XP_006723793.1:p.Leu1276=
XM_006723732.2:c.3729T>C	XP_006723795.1:p.Leu1243=
XM_006723733.1:c.3228T>C	XP_006723796.1:p.Leu1076=
XM_011528647.1:c.4176T>C	XP_011526949.1:p.Leu1392=
XM_011528648.1:c.4173T>C	XP_011526950.1:p.Leu1391=
XM_011528649.1:c.4092T>C	XP_011526951.1:p.Leu1364=
XM_011528650.1:c.4023T>C	XP_011526952.1:p.Leu1341=
XM_011528651.1:c.3891T>C	XP_011526953.1:p.Leu1297=
XM_011528652.1:c.3828T>C	XP_011526954.1:p.Leu1276=
NM_001363734.1:c.3729T>C	NP_001350663.1:p.Leu1243=
XM_006723727.3:c.3909T>C	XP_006723790.1:p.Leu1303=
XM_006723728.3:c.3882T>C	XP_006723791.1:p.Leu1294=
XM_006723730.4:c.3828T>C	XP_006723793.1:p.Leu1276=
XM_011528648.3:c.4173T>C	XP_011526950.1:p.Leu1391=
XM_011528652.2:c.3828T>C	XP_011526954.1:p.Leu1276=
XM_017027704.1:c.3828T>C	XP_016883193.1:p.Leu1276=
XM_017027705.1:c.3828T>C	XP_016883194.1:p.Leu1276=
XM_017027706.1:c.3759T>C	XP_016883195.1:p.Leu1253=
NM_015338.6:c.3912T>C MANE Select	NP_056153.2:p.Leu1304=