Canonical Allele Identifier: CA411648344

Gene: ADSL

Linked Data

• MyVariant Identifiers: chr22:g.40760998A>C (hg19) ; chr22:g.40364994A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364994A>C , CM000684.2:g.40364994A>C	GRCh38
NC_000022.10:g.40760998A>C , CM000684.1:g.40760998A>C	GRCh37
NC_000022.9:g.39090944A>C	NCBI36
NG_007993.1:g.23495A>C
NG_007993.2:g.23495A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*700A>C	ENSP00000485462.2:n.*700A>C
ENST00000623287.4:c.*731A>C	ENSP00000485437.1:n.*731A>C
ENST00000623632.4:c.997A>C	ENSP00000485288.2:p.Ile333Leu
ENST00000625194.4:c.1348A>C	ENSP00000485289.2:p.Ile450Leu
ENST00000636433.1:n.1328A>C
ENST00000636714.1:c.1306A>C	ENSP00000490946.1:p.Ile436Leu
ENST00000637666.2:c.1191+629A>C	ENSP00000489696.2:n.1191+629A>C
ENST00000637669.1:c.1306A>C	ENSP00000489728.1:p.Ile436Leu
ENST00000639722.1:c.*1002A>C	ENSP00000492828.1:n.*1002A>C
ENST00000674592.1:n.2820A>C
ENST00000675622.1:n.4373A>C
ENST00000679609.1:c.*916A>C	ENSP00000506592.1:n.*916A>C
ENST00000679656.1:n.1991A>C
ENST00000679723.1:c.1261A>C	ENSP00000505155.1:p.Ile421Leu
ENST00000679845.1:n.1614A>C
ENST00000679904.1:n.1702A>C
ENST00000680378.1:c.1393A>C	ENSP00000505556.1:p.Ile465Leu
ENST00000680444.1:c.*669A>C	ENSP00000505298.1:n.*669A>C
ENST00000680978.1:c.1306A>C	ENSP00000505244.1:p.Ile436Leu
ENST00000681003.1:n.769A>C
ENST00000681159.1:n.2710A>C
ENST00000216194.11:c.1348A>C	ENSP00000216194.8:p.Ile450Leu
ENST00000342312.9:c.1191+629A>C	ENSP00000341429.6:n.1191+629A>C
ENST00000423176.6:c.33A>C
ENST00000623063.3:c.1306A>C MANE Select	ENSP00000485525.1:p.Ile436Leu
ENST00000623387.1:n.437A>C
ENST00000623869.3:c.37A>C	ENSP00000485211.1:p.Ile13Leu
ENST00000624027.1:c.33A>C
ENST00000625194.3:c.935A>C
NM_000026.2:c.1306A>C	NP_000017.1:p.Ile436Leu
NM_001123378.1:c.1191+629A>C	NP_001116850.1:n.1191+629A>C
XM_011529976.1:c.1306A>C	XP_011528278.1:p.Ile436Leu
XM_011529977.1:c.1306A>C	XP_011528279.1:p.Ile436Leu
XM_011529978.1:c.1191+629A>C	XP_011528280.1:n.1191+629A>C
XM_011529979.1:c.1306A>C	XP_011528281.1:p.Ile436Leu
XM_011529980.1:c.1191+629A>C	XP_011528282.1:n.1191+629A>C
XM_011529981.1:c.841A>C	XP_011528283.1:p.Ile281Leu
XM_011529982.1:c.475A>C	XP_011528284.1:p.Ile159Leu
XR_937824.1:n.1396A>C
XR_937825.1:n.1281+629A>C
NM_000026.3:c.1306A>C	NP_000017.1:p.Ile436Leu
NM_001123378.2:c.1191+629A>C	NP_001116850.1:n.1191+629A>C
NM_001317923.1:c.1114A>C	NP_001304852.1:p.Ile372Leu
NM_001363840.1:c.1306A>C	NP_001350769.1:p.Ile436Leu
NR_134256.1:n.1396A>C
XM_011529977.3:c.1306A>C	XP_011528279.1:p.Ile436Leu
XM_011529980.3:c.1191+629A>C	XP_011528282.1:n.1191+629A>C
XM_017028636.1:c.1261A>C	XP_016884125.1:p.Ile421Leu
XM_017028637.1:c.1261A>C	XP_016884126.1:p.Ile421Leu
XM_017028638.1:c.841A>C	XP_016884127.1:p.Ile281Leu
XM_017028639.2:c.841A>C	XP_016884128.1:p.Ile281Leu
XM_017028640.1:c.475A>C	XP_016884129.1:p.Ile159Leu
XM_024452166.1:c.1146+629A>C	XP_024307934.1:n.1146+629A>C
XR_001755176.2:n.1548A>C
XR_002958670.1:n.1333A>C
XR_937825.3:n.1279+629A>C
NM_000026.4:c.1306A>C MANE Select	NP_000017.1:p.Ile436Leu
NM_001363840.2:c.1306A>C	NP_001350769.1:p.Ile436Leu
NM_001123378.3:c.1191+629A>C	NP_001116850.1:n.1191+629A>C
NM_001317923.2:c.1114A>C	NP_001304852.1:p.Ile372Leu
NM_001363840.3:c.1306A>C	NP_001350769.1:p.Ile436Leu
NR_134256.2:n.1396A>C