Canonical Allele Identifier: CA411648423

Gene: ADSL

Linked Data

• MyVariant Identifiers: chr22:g.40761011T>G (hg19) ; chr22:g.40365007T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40365007T>G , CM000684.2:g.40365007T>G	GRCh38
NC_000022.10:g.40761011T>G , CM000684.1:g.40761011T>G	GRCh37
NC_000022.9:g.39090957T>G	NCBI36
NG_007993.1:g.23508T>G
NG_007993.2:g.23508T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*713T>G	ENSP00000485462.2:n.*713T>G
ENST00000623287.4:c.*744T>G	ENSP00000485437.1:n.*744T>G
ENST00000623632.4:c.1010T>G	ENSP00000485288.2:p.Leu337Trp
ENST00000625194.4:c.1361T>G	ENSP00000485289.2:p.Leu454Trp
ENST00000636433.1:n.1341T>G
ENST00000636714.1:c.1319T>G	ENSP00000490946.1:p.Leu440Trp
ENST00000637666.2:c.1191+642T>G	ENSP00000489696.2:n.1191+642T>G
ENST00000637669.1:c.1319T>G	ENSP00000489728.1:p.Leu440Trp
ENST00000639722.1:c.*1015T>G	ENSP00000492828.1:n.*1015T>G
ENST00000674592.1:n.2833T>G
ENST00000675622.1:n.4386T>G
ENST00000679609.1:c.*929T>G	ENSP00000506592.1:n.*929T>G
ENST00000679656.1:n.2004T>G
ENST00000679723.1:c.1274T>G	ENSP00000505155.1:p.Leu425Trp
ENST00000679845.1:n.1627T>G
ENST00000679904.1:n.1715T>G
ENST00000680378.1:c.1406T>G	ENSP00000505556.1:p.Leu469Trp
ENST00000680444.1:c.*682T>G	ENSP00000505298.1:n.*682T>G
ENST00000680978.1:c.1319T>G	ENSP00000505244.1:p.Leu440Trp
ENST00000681003.1:n.782T>G
ENST00000681159.1:n.2723T>G
ENST00000216194.11:c.1361T>G	ENSP00000216194.8:p.Leu454Trp
ENST00000342312.9:c.1191+642T>G	ENSP00000341429.6:n.1191+642T>G
ENST00000423176.6:c.46T>G
ENST00000623063.3:c.1319T>G MANE Select	ENSP00000485525.1:p.Leu440Trp
ENST00000623387.1:n.450T>G
ENST00000623869.3:c.50T>G	ENSP00000485211.1:p.Leu17Trp
ENST00000624027.1:c.46T>G
ENST00000625194.3:c.948T>G
NM_000026.2:c.1319T>G	NP_000017.1:p.Leu440Trp
NM_001123378.1:c.1191+642T>G	NP_001116850.1:n.1191+642T>G
XM_011529976.1:c.1319T>G	XP_011528278.1:p.Leu440Trp
XM_011529977.1:c.1319T>G	XP_011528279.1:p.Leu440Trp
XM_011529978.1:c.1191+642T>G	XP_011528280.1:n.1191+642T>G
XM_011529979.1:c.1319T>G	XP_011528281.1:p.Leu440Trp
XM_011529980.1:c.1191+642T>G	XP_011528282.1:n.1191+642T>G
XM_011529981.1:c.854T>G	XP_011528283.1:p.Leu285Trp
XM_011529982.1:c.488T>G	XP_011528284.1:p.Leu163Trp
XR_937824.1:n.1409T>G
XR_937825.1:n.1281+642T>G
NM_000026.3:c.1319T>G	NP_000017.1:p.Leu440Trp
NM_001123378.2:c.1191+642T>G	NP_001116850.1:n.1191+642T>G
NM_001317923.1:c.1127T>G	NP_001304852.1:p.Leu376Trp
NM_001363840.1:c.1319T>G	NP_001350769.1:p.Leu440Trp
NR_134256.1:n.1409T>G
XM_011529977.3:c.1319T>G	XP_011528279.1:p.Leu440Trp
XM_011529980.3:c.1191+642T>G	XP_011528282.1:n.1191+642T>G
XM_017028636.1:c.1274T>G	XP_016884125.1:p.Leu425Trp
XM_017028637.1:c.1274T>G	XP_016884126.1:p.Leu425Trp
XM_017028638.1:c.854T>G	XP_016884127.1:p.Leu285Trp
XM_017028639.2:c.854T>G	XP_016884128.1:p.Leu285Trp
XM_017028640.1:c.488T>G	XP_016884129.1:p.Leu163Trp
XM_024452166.1:c.1146+642T>G	XP_024307934.1:n.1146+642T>G
XR_001755176.2:n.1561T>G
XR_002958670.1:n.1346T>G
XR_937825.3:n.1279+642T>G
NM_000026.4:c.1319T>G MANE Select	NP_000017.1:p.Leu440Trp
NM_001363840.2:c.1319T>G	NP_001350769.1:p.Leu440Trp
NM_001123378.3:c.1191+642T>G	NP_001116850.1:n.1191+642T>G
NM_001317923.2:c.1127T>G	NP_001304852.1:p.Leu376Trp
NM_001363840.3:c.1319T>G	NP_001350769.1:p.Leu440Trp
NR_134256.2:n.1409T>G