Canonical Allele Identifier: CA324460759

Gene: ADSL

Linked Data

• ClinVar Variation Id: 2175224
• ClinVar RCV Id: RCV002579061
• dbSNP Id: rs372051078
• gnomAD v4: 22-40364974-T-C
• COSMIC: COSM6380311 ; COSM6380312 ; COSM6380313
• MyVariant Identifiers: chr22:g.40760978T>C (hg19) ; chr22:g.40364974T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364974T>C , CM000684.2:g.40364974T>C	GRCh38
NC_000022.10:g.40760978T>C , CM000684.1:g.40760978T>C	GRCh37
NC_000022.9:g.39090924T>C	NCBI36
NG_007993.1:g.23475T>C
NG_007993.2:g.23475T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000480775.3:c.*680T>C	ENSP00000485462.2:n.*680T>C
ENST00000623287.4:c.*711T>C	ENSP00000485437.1:n.*711T>C
ENST00000623632.4:c.977T>C	ENSP00000485288.2:p.Val326Ala
ENST00000625194.4:c.1328T>C	ENSP00000485289.2:p.Val443Ala
ENST00000636433.1:n.1308T>C
ENST00000636714.1:c.1286T>C	ENSP00000490946.1:p.Val429Ala
ENST00000637666.2:c.1191+609T>C	ENSP00000489696.2:n.1191+609T>C
ENST00000637669.1:c.1286T>C	ENSP00000489728.1:p.Val429Ala
ENST00000639722.1:c.*982T>C	ENSP00000492828.1:n.*982T>C
ENST00000674592.1:n.2800T>C
ENST00000675622.1:n.4353T>C
ENST00000679609.1:c.*896T>C	ENSP00000506592.1:n.*896T>C
ENST00000679656.1:n.1971T>C
ENST00000679723.1:c.1241T>C	ENSP00000505155.1:p.Val414Ala
ENST00000679845.1:n.1594T>C
ENST00000679904.1:n.1682T>C
ENST00000680378.1:c.1373T>C	ENSP00000505556.1:p.Val458Ala
ENST00000680444.1:c.*649T>C	ENSP00000505298.1:n.*649T>C
ENST00000680978.1:c.1286T>C	ENSP00000505244.1:p.Val429Ala
ENST00000681003.1:n.749T>C
ENST00000681159.1:n.2690T>C
ENST00000216194.11:c.1328T>C	ENSP00000216194.8:p.Val443Ala
ENST00000342312.9:c.1191+609T>C	ENSP00000341429.6:n.1191+609T>C
ENST00000423176.6:c.13T>C
ENST00000623063.3:c.1286T>C MANE Select	ENSP00000485525.1:p.Val429Ala
ENST00000623387.1:n.417T>C
ENST00000623869.3:c.17T>C	ENSP00000485211.1:p.Val6Ala
ENST00000624027.1:c.13T>C
ENST00000625194.3:c.915T>C
NM_000026.2:c.1286T>C	NP_000017.1:p.Val429Ala
NM_001123378.1:c.1191+609T>C	NP_001116850.1:n.1191+609T>C
XM_011529976.1:c.1286T>C	XP_011528278.1:p.Val429Ala
XM_011529977.1:c.1286T>C	XP_011528279.1:p.Val429Ala
XM_011529978.1:c.1191+609T>C	XP_011528280.1:n.1191+609T>C
XM_011529979.1:c.1286T>C	XP_011528281.1:p.Val429Ala
XM_011529980.1:c.1191+609T>C	XP_011528282.1:n.1191+609T>C
XM_011529981.1:c.821T>C	XP_011528283.1:p.Val274Ala
XM_011529982.1:c.455T>C	XP_011528284.1:p.Val152Ala
XR_937824.1:n.1376T>C
XR_937825.1:n.1281+609T>C
NM_000026.3:c.1286T>C	NP_000017.1:p.Val429Ala
NM_001123378.2:c.1191+609T>C	NP_001116850.1:n.1191+609T>C
NM_001317923.1:c.1094T>C	NP_001304852.1:p.Val365Ala
NM_001363840.1:c.1286T>C	NP_001350769.1:p.Val429Ala
NR_134256.1:n.1376T>C
XM_011529977.3:c.1286T>C	XP_011528279.1:p.Val429Ala
XM_011529980.3:c.1191+609T>C	XP_011528282.1:n.1191+609T>C
XM_017028636.1:c.1241T>C	XP_016884125.1:p.Val414Ala
XM_017028637.1:c.1241T>C	XP_016884126.1:p.Val414Ala
XM_017028638.1:c.821T>C	XP_016884127.1:p.Val274Ala
XM_017028639.2:c.821T>C	XP_016884128.1:p.Val274Ala
XM_017028640.1:c.455T>C	XP_016884129.1:p.Val152Ala
XM_024452166.1:c.1146+609T>C	XP_024307934.1:n.1146+609T>C
XR_001755176.2:n.1528T>C
XR_002958670.1:n.1313T>C
XR_937825.3:n.1279+609T>C
NM_000026.4:c.1286T>C MANE Select	NP_000017.1:p.Val429Ala
NM_001363840.2:c.1286T>C	NP_001350769.1:p.Val429Ala
NM_001123378.3:c.1191+609T>C	NP_001116850.1:n.1191+609T>C
NM_001317923.2:c.1094T>C	NP_001304852.1:p.Val365Ala
NM_001363840.3:c.1286T>C	NP_001350769.1:p.Val429Ala
NR_134256.2:n.1376T>C