Canonical Allele Identifier: CA30071308

Gene: ADAMTSL4 ADAMTSL4-AS2

Linked Data

• dbSNP Id: rs1034638900
• gnomAD v3: 1-150557174-T-G
• gnomAD v4: 1-150557174-T-G
• MyVariant Identifiers: chr1:g.150529650T>G (hg19) ; chr1:g.150557174T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150557174T>G , CM000663.2:g.150557174T>G	GRCh38
NC_000001.10:g.150529650T>G , CM000663.1:g.150529650T>G	GRCh37
NC_000001.9:g.148796274T>G	NCBI36
NG_012172.1:g.12753T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271643.9:c.1886T>G (ADAMTSL4) MANE Select	ENSP00000271643.4:p.Leu629Arg
ENST00000674043.1:c.1955T>G (ADAMTSL4)	ENSP00000501295.1:p.Leu652Arg
ENST00000674058.1:c.1857-88T>G (ADAMTSL4)	ENSP00000501255.1:n.1857-88T>G
ENST00000271643.8:c.1886T>G (ADAMTSL4)	ENSP00000271643.4:p.Leu629Arg
ENST00000369038.6:c.1886T>G (ADAMTSL4)	ENSP00000358034.2:p.Leu629Arg
ENST00000369039.9:c.1955T>G (ADAMTSL4)	ENSP00000358035.5:p.Leu652Arg
ENST00000369041.9:c.1886T>G (ADAMTSL4)	ENSP00000358037.5:p.Leu629Arg
ENST00000622417.4:c.500T>G (ADAMTSL4)	ENSP00000477897.1:p.Leu167Arg
NM_001288607.1:c.1857-88T>G (ADAMTSL4)	NP_001275536.1:n.1857-88T>G
NM_001288608.1:c.1955T>G (ADAMTSL4)	NP_001275537.1:p.Leu652Arg
NM_019032.5:c.1886T>G (ADAMTSL4)	NP_061905.2:p.Leu629Arg
NM_025008.4:c.1886T>G (ADAMTSL4)	NP_079284.2:p.Leu629Arg
XM_011509644.1:c.2054T>G (ADAMTSL4)	XP_011507946.1:p.Leu685Arg
XM_011509645.1:c.1985T>G (ADAMTSL4)	XP_011507947.1:p.Leu662Arg
XM_011509646.1:c.1955T>G (ADAMTSL4)	XP_011507948.1:p.Leu652Arg
XM_011509647.1:c.1955T>G (ADAMTSL4)	XP_011507949.1:p.Leu652Arg
XM_011509648.1:c.1955T>G (ADAMTSL4)	XP_011507950.1:p.Leu652Arg
XM_011509649.1:c.2054T>G (ADAMTSL4)	XP_011507951.1:p.Leu685Arg
XM_011509650.1:c.2054T>G (ADAMTSL4)	XP_011507952.1:p.Leu685Arg
XM_011509651.1:c.563T>G (ADAMTSL4)	XP_011507953.1:p.Leu188Arg
XM_011509652.1:c.563T>G (ADAMTSL4)	XP_011507954.1:p.Leu188Arg
XR_921844.1:n.2239T>G (ADAMTSL4)
XR_922133.1:n.139+519A>C (ADAMTSL4-AS2)
XM_011509644.3:c.2054T>G (ADAMTSL4)	XP_011507946.1:p.Leu685Arg
XM_011509645.3:c.1985T>G (ADAMTSL4)	XP_011507947.1:p.Leu662Arg
XM_011509648.3:c.1955T>G (ADAMTSL4)	XP_011507950.1:p.Leu652Arg
XM_011509649.3:c.2054T>G (ADAMTSL4)	XP_011507951.1:p.Leu685Arg
XM_011509650.3:c.2054T>G (ADAMTSL4)	XP_011507952.1:p.Leu685Arg
XM_011509651.2:c.563T>G (ADAMTSL4)	XP_011507953.1:p.Leu188Arg
XM_011509652.2:c.563T>G (ADAMTSL4)	XP_011507954.1:p.Leu188Arg
XM_017001506.2:c.1955T>G (ADAMTSL4)	XP_016856995.1:p.Leu652Arg
XM_017001507.1:c.299T>G (ADAMTSL4)	XP_016856996.1:p.Leu100Arg
XR_001737242.2:n.2039T>G (ADAMTSL4)
XR_921844.3:n.2212T>G (ADAMTSL4)
NM_001288607.2:c.1857-88T>G (ADAMTSL4)	NP_001275536.1:n.1857-88T>G
NM_025008.5:c.1886T>G (ADAMTSL4)	NP_079284.2:p.Leu629Arg
NM_001288608.2:c.1955T>G (ADAMTSL4)	NP_001275537.1:p.Leu652Arg
NM_001378596.1:c.1886T>G (ADAMTSL4)	NP_001365525.1:p.Leu629Arg
NM_019032.6:c.1886T>G (ADAMTSL4) MANE Select	NP_061905.2:p.Leu629Arg