Canonical Allele Identifier: CA342299904

Gene: ADAMTSL4 ADAMTSL4-AS2

Linked Data

• gnomAD v4: 1-150553166-C-G
• MyVariant Identifiers: chr1:g.150525642C>G (hg19) ; chr1:g.150553166C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150553166C>G , CM000663.2:g.150553166C>G	GRCh38
NC_000001.10:g.150525642C>G , CM000663.1:g.150525642C>G	GRCh37
NC_000001.9:g.148792266C>G	NCBI36
NG_012172.1:g.8745C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271643.9:c.347C>G (ADAMTSL4) MANE Select	ENSP00000271643.4:p.Thr116Arg
ENST00000674043.1:c.347C>G (ADAMTSL4)	ENSP00000501295.1:p.Thr116Arg
ENST00000674058.1:c.347C>G (ADAMTSL4)	ENSP00000501255.1:p.Thr116Arg
ENST00000271643.8:c.347C>G (ADAMTSL4)	ENSP00000271643.4:p.Thr116Arg
ENST00000369038.6:c.347C>G (ADAMTSL4)	ENSP00000358034.2:p.Thr116Arg
ENST00000369039.9:c.347C>G (ADAMTSL4)	ENSP00000358035.5:p.Thr116Arg
ENST00000369041.9:c.347C>G (ADAMTSL4)	ENSP00000358037.5:p.Thr116Arg
NM_001288607.1:c.347C>G (ADAMTSL4)	NP_001275536.1:p.Thr116Arg
NM_001288608.1:c.347C>G (ADAMTSL4)	NP_001275537.1:p.Thr116Arg
NM_019032.5:c.347C>G (ADAMTSL4)	NP_061905.2:p.Thr116Arg
NM_025008.4:c.347C>G (ADAMTSL4)	NP_079284.2:p.Thr116Arg
XM_011509644.1:c.446C>G (ADAMTSL4)	XP_011507946.1:p.Thr149Arg
XM_011509645.1:c.446C>G (ADAMTSL4)	XP_011507947.1:p.Thr149Arg
XM_011509646.1:c.347C>G (ADAMTSL4)	XP_011507948.1:p.Thr116Arg
XM_011509647.1:c.347C>G (ADAMTSL4)	XP_011507949.1:p.Thr116Arg
XM_011509648.1:c.347C>G (ADAMTSL4)	XP_011507950.1:p.Thr116Arg
XM_011509649.1:c.446C>G (ADAMTSL4)	XP_011507951.1:p.Thr149Arg
XM_011509650.1:c.446C>G (ADAMTSL4)	XP_011507952.1:p.Thr149Arg
XR_921844.1:n.631C>G (ADAMTSL4)
XR_922132.1:n.370+1369G>C (ADAMTSL4-AS2)
XR_922133.1:n.417+1369G>C (ADAMTSL4-AS2)
XM_011509644.3:c.446C>G (ADAMTSL4)	XP_011507946.1:p.Thr149Arg
XM_011509645.3:c.446C>G (ADAMTSL4)	XP_011507947.1:p.Thr149Arg
XM_011509648.3:c.347C>G (ADAMTSL4)	XP_011507950.1:p.Thr116Arg
XM_011509649.3:c.446C>G (ADAMTSL4)	XP_011507951.1:p.Thr149Arg
XM_011509650.3:c.446C>G (ADAMTSL4)	XP_011507952.1:p.Thr149Arg
XM_017001506.2:c.347C>G (ADAMTSL4)	XP_016856995.1:p.Thr116Arg
XR_001737242.2:n.604C>G (ADAMTSL4)
XR_001738226.1:n.467-241G>C (ADAMTSL4-AS2)
XR_001738227.1:n.466+1369G>C (ADAMTSL4-AS2)
XR_001738228.1:n.372-241G>C (ADAMTSL4-AS2)
XR_001738229.1:n.357+2788G>C (ADAMTSL4-AS2)
XR_921844.3:n.604C>G (ADAMTSL4)
NM_001288607.2:c.347C>G (ADAMTSL4)	NP_001275536.1:p.Thr116Arg
NM_025008.5:c.347C>G (ADAMTSL4)	NP_079284.2:p.Thr116Arg
NM_001288608.2:c.347C>G (ADAMTSL4)	NP_001275537.1:p.Thr116Arg
NM_001378596.1:c.347C>G (ADAMTSL4)	NP_001365525.1:p.Thr116Arg
NM_019032.6:c.347C>G (ADAMTSL4) MANE Select	NP_061905.2:p.Thr116Arg