Canonical Allele Identifier: CA1077982

Gene: ADAMTSL4 ADAMTSL4-AS2

Linked Data

• ClinVar Variation Id: 1410106
• ClinVar RCV Id: RCV001916278
• dbSNP Id: rs146358482
• ExAC: 1:150525994 G / A
• gnomAD v2: 1-150525994-G-A
• gnomAD v3: 1-150553518-G-A
• gnomAD v4: 1-150553518-G-A
• MyVariant Identifiers: chr1:g.150525994G>A (hg19) ; chr1:g.150553518G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150553518G>A , CM000663.2:g.150553518G>A	GRCh38
NC_000001.10:g.150525994G>A , CM000663.1:g.150525994G>A	GRCh37
NC_000001.9:g.148792618G>A	NCBI36
NG_012172.1:g.9097G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271643.9:c.527G>A (ADAMTSL4) MANE Select	ENSP00000271643.4:p.Arg176Gln
ENST00000674043.1:c.527G>A (ADAMTSL4)	ENSP00000501295.1:p.Arg176Gln
ENST00000674058.1:c.527G>A (ADAMTSL4)	ENSP00000501255.1:p.Arg176Gln
ENST00000271643.8:c.527G>A (ADAMTSL4)	ENSP00000271643.4:p.Arg176Gln
ENST00000369038.6:c.527G>A (ADAMTSL4)	ENSP00000358034.2:p.Arg176Gln
ENST00000369039.9:c.527G>A (ADAMTSL4)	ENSP00000358035.5:p.Arg176Gln
ENST00000369041.9:c.527G>A (ADAMTSL4)	ENSP00000358037.5:p.Arg176Gln
NM_001288607.1:c.527G>A (ADAMTSL4)	NP_001275536.1:p.Arg176Gln
NM_001288608.1:c.527G>A (ADAMTSL4)	NP_001275537.1:p.Arg176Gln
NM_019032.5:c.527G>A (ADAMTSL4)	NP_061905.2:p.Arg176Gln
NM_025008.4:c.527G>A (ADAMTSL4)	NP_079284.2:p.Arg176Gln
XM_011509644.1:c.626G>A (ADAMTSL4)	XP_011507946.1:p.Arg209Gln
XM_011509645.1:c.626G>A (ADAMTSL4)	XP_011507947.1:p.Arg209Gln
XM_011509646.1:c.527G>A (ADAMTSL4)	XP_011507948.1:p.Arg176Gln
XM_011509647.1:c.527G>A (ADAMTSL4)	XP_011507949.1:p.Arg176Gln
XM_011509648.1:c.527G>A (ADAMTSL4)	XP_011507950.1:p.Arg176Gln
XM_011509649.1:c.626G>A (ADAMTSL4)	XP_011507951.1:p.Arg209Gln
XM_011509650.1:c.626G>A (ADAMTSL4)	XP_011507952.1:p.Arg209Gln
XR_921844.1:n.811G>A (ADAMTSL4)
XR_922132.1:n.370+1017C>T (ADAMTSL4-AS2)
XR_922133.1:n.417+1017C>T (ADAMTSL4-AS2)
XM_011509644.3:c.626G>A (ADAMTSL4)	XP_011507946.1:p.Arg209Gln
XM_011509645.3:c.626G>A (ADAMTSL4)	XP_011507947.1:p.Arg209Gln
XM_011509648.3:c.527G>A (ADAMTSL4)	XP_011507950.1:p.Arg176Gln
XM_011509649.3:c.626G>A (ADAMTSL4)	XP_011507951.1:p.Arg209Gln
XM_011509650.3:c.626G>A (ADAMTSL4)	XP_011507952.1:p.Arg209Gln
XM_017001506.2:c.527G>A (ADAMTSL4)	XP_016856995.1:p.Arg176Gln
XR_001737242.2:n.784G>A (ADAMTSL4)
XR_001738226.1:n.467-593C>T (ADAMTSL4-AS2)
XR_001738227.1:n.466+1017C>T (ADAMTSL4-AS2)
XR_001738228.1:n.372-593C>T (ADAMTSL4-AS2)
XR_001738229.1:n.357+2436C>T (ADAMTSL4-AS2)
XR_921844.3:n.784G>A (ADAMTSL4)
NM_001288607.2:c.527G>A (ADAMTSL4)	NP_001275536.1:p.Arg176Gln
NM_025008.5:c.527G>A (ADAMTSL4)	NP_079284.2:p.Arg176Gln
NM_001288608.2:c.527G>A (ADAMTSL4)	NP_001275537.1:p.Arg176Gln
NM_001378596.1:c.527G>A (ADAMTSL4)	NP_001365525.1:p.Arg176Gln
NM_019032.6:c.527G>A (ADAMTSL4) MANE Select	NP_061905.2:p.Arg176Gln