Canonical Allele Identifier: CA411647757

Gene: ADSL

Linked Data

• MyVariant Identifiers: chr22:g.40760924C>T (hg19) ; chr22:g.40364920C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364920C>T , CM000684.2:g.40364920C>T	GRCh38
NC_000022.10:g.40760924C>T , CM000684.1:g.40760924C>T	GRCh37
NC_000022.9:g.39090870C>T	NCBI36
NG_007993.1:g.23421C>T
NG_007993.2:g.23421C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*626C>T	ENSP00000485462.2:n.*626C>T
ENST00000623287.4:c.*657C>T	ENSP00000485437.1:n.*657C>T
ENST00000623632.4:c.923C>T	ENSP00000485288.2:p.Ala308Val
ENST00000625194.4:c.1274C>T	ENSP00000485289.2:p.Ala425Val
ENST00000636433.1:n.1254C>T
ENST00000636714.1:c.1232C>T	ENSP00000490946.1:p.Ala411Val
ENST00000637666.2:c.1191+555C>T	ENSP00000489696.2:n.1191+555C>T
ENST00000637669.1:c.1232C>T	ENSP00000489728.1:p.Ala411Val
ENST00000639722.1:c.*928C>T	ENSP00000492828.1:n.*928C>T
ENST00000674592.1:n.2746C>T
ENST00000675622.1:n.4299C>T
ENST00000679609.1:c.*842C>T	ENSP00000506592.1:n.*842C>T
ENST00000679656.1:n.1917C>T
ENST00000679723.1:c.1187C>T	ENSP00000505155.1:p.Ala396Val
ENST00000679845.1:n.1540C>T
ENST00000679904.1:n.1628C>T
ENST00000680378.1:c.1319C>T	ENSP00000505556.1:p.Ala440Val
ENST00000680444.1:c.*595C>T	ENSP00000505298.1:n.*595C>T
ENST00000680978.1:c.1232C>T	ENSP00000505244.1:p.Ala411Val
ENST00000681003.1:n.695C>T
ENST00000681159.1:n.2636C>T
ENST00000216194.11:c.1274C>T	ENSP00000216194.8:p.Ala425Val
ENST00000342312.9:c.1191+555C>T	ENSP00000341429.6:n.1191+555C>T
ENST00000623063.3:c.1232C>T MANE Select	ENSP00000485525.1:p.Ala411Val
ENST00000623387.1:n.363C>T
ENST00000625194.3:c.861C>T
NM_000026.2:c.1232C>T	NP_000017.1:p.Ala411Val
NM_001123378.1:c.1191+555C>T	NP_001116850.1:n.1191+555C>T
XM_011529976.1:c.1232C>T	XP_011528278.1:p.Ala411Val
XM_011529977.1:c.1232C>T	XP_011528279.1:p.Ala411Val
XM_011529978.1:c.1191+555C>T	XP_011528280.1:n.1191+555C>T
XM_011529979.1:c.1232C>T	XP_011528281.1:p.Ala411Val
XM_011529980.1:c.1191+555C>T	XP_011528282.1:n.1191+555C>T
XM_011529981.1:c.767C>T	XP_011528283.1:p.Ala256Val
XM_011529982.1:c.401C>T	XP_011528284.1:p.Ala134Val
XR_937824.1:n.1322C>T
XR_937825.1:n.1281+555C>T
NM_000026.3:c.1232C>T	NP_000017.1:p.Ala411Val
NM_001123378.2:c.1191+555C>T	NP_001116850.1:n.1191+555C>T
NM_001317923.1:c.1040C>T	NP_001304852.1:p.Ala347Val
NM_001363840.1:c.1232C>T	NP_001350769.1:p.Ala411Val
NR_134256.1:n.1322C>T
XM_011529977.3:c.1232C>T	XP_011528279.1:p.Ala411Val
XM_011529980.3:c.1191+555C>T	XP_011528282.1:n.1191+555C>T
XM_017028636.1:c.1187C>T	XP_016884125.1:p.Ala396Val
XM_017028637.1:c.1187C>T	XP_016884126.1:p.Ala396Val
XM_017028638.1:c.767C>T	XP_016884127.1:p.Ala256Val
XM_017028639.2:c.767C>T	XP_016884128.1:p.Ala256Val
XM_017028640.1:c.401C>T	XP_016884129.1:p.Ala134Val
XM_024452166.1:c.1146+555C>T	XP_024307934.1:n.1146+555C>T
XR_001755176.2:n.1474C>T
XR_002958670.1:n.1259C>T
XR_937825.3:n.1279+555C>T
NM_000026.4:c.1232C>T MANE Select	NP_000017.1:p.Ala411Val
NM_001363840.2:c.1232C>T	NP_001350769.1:p.Ala411Val
NM_001123378.3:c.1191+555C>T	NP_001116850.1:n.1191+555C>T
NM_001317923.2:c.1040C>T	NP_001304852.1:p.Ala347Val
NM_001363840.3:c.1232C>T	NP_001350769.1:p.Ala411Val
NR_134256.2:n.1322C>T