Canonical Allele Identifier: CA5000301
Gene: ADAMTSL1 HGNC NCBI
SAXO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.18906749C>T , CM000671.2:g.18906749C>T GRCh38
NC_000009.11:g.18906747C>T , CM000671.1:g.18906747C>T GRCh37
NC_000009.10:g.18896747C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000380548.9:c.5019C>T (ADAMTSL1) MANE Select ENSP00000369921.4:p.Ser1673=
ENST00000649457.1:c.*2024-5609G>A (SAXO1) ENSP00000497677.1:n.*2024-5609G>A
ENST00000680146.1:c.5163C>T (ADAMTSL1) ENSP00000505591.1:p.Ser1721=
ENST00000380545.9:c.1122C>T (ADAMTSL1) ENSP00000369918.5:p.Ser374=
ENST00000380548.8:c.5019C>T (ADAMTSL1) ENSP00000369921.4:p.Ser1673=
ENST00000380559.7:n.3551C>T (ADAMTSL1)
ENST00000388710.8:c.733C>T (ADAMTSL1) ENSP00000373362.4:p.Pro245Ser
ENST00000489062.2:n.459C>T (ADAMTSL1)
ENST00000542621.5:c.*137C>T (ADAMTSL1) ENSP00000440472.1:n.*137C>T
NM_001040272.5:c.5019C>T (ADAMTSL1) NP_001035362.3:p.Ser1673=
XM_011518063.1:c.5217C>T (ADAMTSL1) XP_011516365.1:p.Ser1739=
XM_011518064.1:c.5172C>T (ADAMTSL1) XP_011516366.1:p.Ser1724=
XM_011518065.1:c.5139C>T (ADAMTSL1) XP_011516367.1:p.Ser1713=
XM_011518066.1:c.4569C>T (ADAMTSL1) XP_011516368.1:p.Ser1523=
XM_011518067.1:c.3915C>T (ADAMTSL1) XP_011516369.1:p.Ser1305=
XM_011518068.1:c.3615C>T (ADAMTSL1) XP_011516370.1:p.Ser1205=
XM_011518069.1:c.3615C>T (ADAMTSL1) XP_011516371.1:p.Ser1205=
XM_011518070.1:c.3615C>T (ADAMTSL1) XP_011516372.1:p.Ser1205=
XR_929502.1:n.376-1424G>A
XM_011518063.2:c.5217C>T (ADAMTSL1) XP_011516365.1:p.Ser1739=
XM_011518064.3:c.5172C>T (ADAMTSL1) XP_011516366.1:p.Ser1724=
XM_011518068.2:c.3615C>T (ADAMTSL1) XP_011516370.1:p.Ser1205=
XM_011518070.2:c.3615C>T (ADAMTSL1) XP_011516372.1:p.Ser1205=
XM_017015310.1:c.5175C>T (ADAMTSL1) XP_016870799.1:p.Ser1725=
XM_017015311.1:c.5166C>T (ADAMTSL1) XP_016870800.1:p.Ser1722=
XM_017015312.2:c.5121C>T (ADAMTSL1) XP_016870801.1:p.Ser1707=
XM_017015313.1:c.4569C>T (ADAMTSL1) XP_016870802.1:p.Ser1523=
NM_001040272.6:c.5019C>T (ADAMTSL1) MANE Select NP_001035362.3:p.Ser1673=