Canonical Allele Identifier: CA342301304

Gene: ADAMTSL4 ADAMTSL4-AS2

Linked Data

• dbSNP Id: rs1671663027
• COSMIC: COSM5048564 ; COSM5048565 ; COSM5048566
• MyVariant Identifiers: chr1:g.150526027C>T (hg19) ; chr1:g.150553551C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150553551C>T , CM000663.2:g.150553551C>T	GRCh38
NC_000001.10:g.150526027C>T , CM000663.1:g.150526027C>T	GRCh37
NC_000001.9:g.148792651C>T	NCBI36
NG_012172.1:g.9130C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271643.9:c.560C>T (ADAMTSL4) MANE Select	ENSP00000271643.4:p.Ser187Phe
ENST00000674043.1:c.560C>T (ADAMTSL4)	ENSP00000501295.1:p.Ser187Phe
ENST00000674058.1:c.560C>T (ADAMTSL4)	ENSP00000501255.1:p.Ser187Phe
ENST00000271643.8:c.560C>T (ADAMTSL4)	ENSP00000271643.4:p.Ser187Phe
ENST00000369038.6:c.560C>T (ADAMTSL4)	ENSP00000358034.2:p.Ser187Phe
ENST00000369039.9:c.560C>T (ADAMTSL4)	ENSP00000358035.5:p.Ser187Phe
ENST00000369041.9:c.560C>T (ADAMTSL4)	ENSP00000358037.5:p.Ser187Phe
NM_001288607.1:c.560C>T (ADAMTSL4)	NP_001275536.1:p.Ser187Phe
NM_001288608.1:c.560C>T (ADAMTSL4)	NP_001275537.1:p.Ser187Phe
NM_019032.5:c.560C>T (ADAMTSL4)	NP_061905.2:p.Ser187Phe
NM_025008.4:c.560C>T (ADAMTSL4)	NP_079284.2:p.Ser187Phe
XM_011509644.1:c.659C>T (ADAMTSL4)	XP_011507946.1:p.Ser220Phe
XM_011509645.1:c.659C>T (ADAMTSL4)	XP_011507947.1:p.Ser220Phe
XM_011509646.1:c.560C>T (ADAMTSL4)	XP_011507948.1:p.Ser187Phe
XM_011509647.1:c.560C>T (ADAMTSL4)	XP_011507949.1:p.Ser187Phe
XM_011509648.1:c.560C>T (ADAMTSL4)	XP_011507950.1:p.Ser187Phe
XM_011509649.1:c.659C>T (ADAMTSL4)	XP_011507951.1:p.Ser220Phe
XM_011509650.1:c.659C>T (ADAMTSL4)	XP_011507952.1:p.Ser220Phe
XR_921844.1:n.844C>T (ADAMTSL4)
XR_922132.1:n.370+984G>A (ADAMTSL4-AS2)
XR_922133.1:n.417+984G>A (ADAMTSL4-AS2)
XM_011509644.3:c.659C>T (ADAMTSL4)	XP_011507946.1:p.Ser220Phe
XM_011509645.3:c.659C>T (ADAMTSL4)	XP_011507947.1:p.Ser220Phe
XM_011509648.3:c.560C>T (ADAMTSL4)	XP_011507950.1:p.Ser187Phe
XM_011509649.3:c.659C>T (ADAMTSL4)	XP_011507951.1:p.Ser220Phe
XM_011509650.3:c.659C>T (ADAMTSL4)	XP_011507952.1:p.Ser220Phe
XM_017001506.2:c.560C>T (ADAMTSL4)	XP_016856995.1:p.Ser187Phe
XR_001737242.2:n.817C>T (ADAMTSL4)
XR_001738226.1:n.467-626G>A (ADAMTSL4-AS2)
XR_001738227.1:n.466+984G>A (ADAMTSL4-AS2)
XR_001738228.1:n.372-626G>A (ADAMTSL4-AS2)
XR_001738229.1:n.357+2403G>A (ADAMTSL4-AS2)
XR_921844.3:n.817C>T (ADAMTSL4)
NM_001288607.2:c.560C>T (ADAMTSL4)	NP_001275536.1:p.Ser187Phe
NM_025008.5:c.560C>T (ADAMTSL4)	NP_079284.2:p.Ser187Phe
NM_001288608.2:c.560C>T (ADAMTSL4)	NP_001275537.1:p.Ser187Phe
NM_001378596.1:c.560C>T (ADAMTSL4)	NP_001365525.1:p.Ser187Phe
NM_019032.6:c.560C>T (ADAMTSL4) MANE Select	NP_061905.2:p.Ser187Phe