Canonical Allele Identifier: CA514615584

Gene: ADSL

Linked Data

• MyVariant Identifiers: chr22:g.40760910T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364906T>C , CM000684.2:g.40364906T>C	GRCh38
NC_000022.10:g.40760910T>C , CM000684.1:g.40760910T>C	GRCh37
NC_000022.9:g.39090856T>C	NCBI36
NG_007993.1:g.23407T>C
NG_007993.2:g.23407T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*612T>C	ENSP00000485462.2:n.*612T>C
ENST00000623287.4:c.*643T>C	ENSP00000485437.1:n.*643T>C
ENST00000623632.4:c.909T>C	ENSP00000485288.2:p.Leu303=
ENST00000625194.4:c.1260T>C	ENSP00000485289.2:p.Leu420=
ENST00000636433.1:n.1240T>C
ENST00000636714.1:c.1218T>C	ENSP00000490946.1:p.Leu406=
ENST00000637666.2:c.1191+541T>C	ENSP00000489696.2:n.1191+541T>C
ENST00000637669.1:c.1218T>C	ENSP00000489728.1:p.Leu406=
ENST00000639722.1:c.*914T>C	ENSP00000492828.1:n.*914T>C
ENST00000674592.1:n.2732T>C
ENST00000675622.1:n.4285T>C
ENST00000679609.1:c.*828T>C	ENSP00000506592.1:n.*828T>C
ENST00000679656.1:n.1903T>C
ENST00000679723.1:c.1173T>C	ENSP00000505155.1:p.Leu391=
ENST00000679845.1:n.1526T>C
ENST00000679904.1:n.1614T>C
ENST00000680378.1:c.1305T>C	ENSP00000505556.1:p.Leu435=
ENST00000680444.1:c.*581T>C	ENSP00000505298.1:n.*581T>C
ENST00000680978.1:c.1218T>C	ENSP00000505244.1:p.Leu406=
ENST00000681003.1:n.681T>C
ENST00000681159.1:n.2622T>C
ENST00000216194.11:c.1260T>C	ENSP00000216194.8:p.Leu420=
ENST00000342312.9:c.1191+541T>C	ENSP00000341429.6:n.1191+541T>C
ENST00000623063.3:c.1218T>C MANE Select	ENSP00000485525.1:p.Leu406=
ENST00000623387.1:n.349T>C
ENST00000625194.3:c.847T>C
NM_000026.2:c.1218T>C	NP_000017.1:p.Leu406=
NM_001123378.1:c.1191+541T>C	NP_001116850.1:n.1191+541T>C
XM_011529976.1:c.1218T>C	XP_011528278.1:p.Leu406=
XM_011529977.1:c.1218T>C	XP_011528279.1:p.Leu406=
XM_011529978.1:c.1191+541T>C	XP_011528280.1:n.1191+541T>C
XM_011529979.1:c.1218T>C	XP_011528281.1:p.Leu406=
XM_011529980.1:c.1191+541T>C	XP_011528282.1:n.1191+541T>C
XM_011529981.1:c.753T>C	XP_011528283.1:p.Leu251=
XM_011529982.1:c.387T>C	XP_011528284.1:p.Leu129=
XR_937824.1:n.1308T>C
XR_937825.1:n.1281+541T>C
NM_000026.3:c.1218T>C	NP_000017.1:p.Leu406=
NM_001123378.2:c.1191+541T>C	NP_001116850.1:n.1191+541T>C
NM_001317923.1:c.1026T>C	NP_001304852.1:p.Leu342=
NM_001363840.1:c.1218T>C	NP_001350769.1:p.Leu406=
NR_134256.1:n.1308T>C
XM_011529977.3:c.1218T>C	XP_011528279.1:p.Leu406=
XM_011529980.3:c.1191+541T>C	XP_011528282.1:n.1191+541T>C
XM_017028636.1:c.1173T>C	XP_016884125.1:p.Leu391=
XM_017028637.1:c.1173T>C	XP_016884126.1:p.Leu391=
XM_017028638.1:c.753T>C	XP_016884127.1:p.Leu251=
XM_017028639.2:c.753T>C	XP_016884128.1:p.Leu251=
XM_017028640.1:c.387T>C	XP_016884129.1:p.Leu129=
XM_024452166.1:c.1146+541T>C	XP_024307934.1:n.1146+541T>C
XR_001755176.2:n.1460T>C
XR_002958670.1:n.1245T>C
XR_937825.3:n.1279+541T>C
NM_000026.4:c.1218T>C MANE Select	NP_000017.1:p.Leu406=
NM_001363840.2:c.1218T>C	NP_001350769.1:p.Leu406=
NM_001123378.3:c.1191+541T>C	NP_001116850.1:n.1191+541T>C
NM_001317923.2:c.1026T>C	NP_001304852.1:p.Leu342=
NM_001363840.3:c.1218T>C	NP_001350769.1:p.Leu406=
NR_134256.2:n.1308T>C