Canonical Allele Identifier: CA1078465

Gene: ADAMTSL4 ADAMTSL4-AS2

Linked Data

• dbSNP Id: rs755834546
• ExAC: 1:150529716 T / C
• gnomAD v2: 1-150529716-T-C
• gnomAD v4: 1-150557240-T-C
• MyVariant Identifiers: chr1:g.150529716T>C (hg19) ; chr1:g.150557240T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150557240T>C , CM000663.2:g.150557240T>C	GRCh38
NC_000001.10:g.150529716T>C , CM000663.1:g.150529716T>C	GRCh37
NC_000001.9:g.148796340T>C	NCBI36
NG_012172.1:g.12819T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271643.9:c.1952T>C (ADAMTSL4) MANE Select	ENSP00000271643.4:p.Met651Thr
ENST00000674043.1:c.2021T>C (ADAMTSL4)	ENSP00000501295.1:p.Met674Thr
ENST00000674058.1:c.1857-22T>C (ADAMTSL4)	ENSP00000501255.1:n.1857-22T>C
ENST00000271643.8:c.1952T>C (ADAMTSL4)	ENSP00000271643.4:p.Met651Thr
ENST00000369038.6:c.1952T>C (ADAMTSL4)	ENSP00000358034.2:p.Met651Thr
ENST00000369039.9:c.2021T>C (ADAMTSL4)	ENSP00000358035.5:p.Met674Thr
ENST00000369041.9:c.1952T>C (ADAMTSL4)	ENSP00000358037.5:p.Met651Thr
ENST00000622417.4:c.566T>C (ADAMTSL4)	ENSP00000477897.1:p.Met189Thr
NM_001288607.1:c.1857-22T>C (ADAMTSL4)	NP_001275536.1:n.1857-22T>C
NM_001288608.1:c.2021T>C (ADAMTSL4)	NP_001275537.1:p.Met674Thr
NM_019032.5:c.1952T>C (ADAMTSL4)	NP_061905.2:p.Met651Thr
NM_025008.4:c.1952T>C (ADAMTSL4)	NP_079284.2:p.Met651Thr
XM_011509644.1:c.2120T>C (ADAMTSL4)	XP_011507946.1:p.Met707Thr
XM_011509645.1:c.2051T>C (ADAMTSL4)	XP_011507947.1:p.Met684Thr
XM_011509646.1:c.2021T>C (ADAMTSL4)	XP_011507948.1:p.Met674Thr
XM_011509647.1:c.2021T>C (ADAMTSL4)	XP_011507949.1:p.Met674Thr
XM_011509648.1:c.2021T>C (ADAMTSL4)	XP_011507950.1:p.Met674Thr
XM_011509649.1:c.2120T>C (ADAMTSL4)	XP_011507951.1:p.Met707Thr
XM_011509650.1:c.2120T>C (ADAMTSL4)	XP_011507952.1:p.Met707Thr
XM_011509651.1:c.629T>C (ADAMTSL4)	XP_011507953.1:p.Met210Thr
XM_011509652.1:c.629T>C (ADAMTSL4)	XP_011507954.1:p.Met210Thr
XR_921844.1:n.2305T>C (ADAMTSL4)
XR_922133.1:n.139+453A>G (ADAMTSL4-AS2)
XM_011509644.3:c.2120T>C (ADAMTSL4)	XP_011507946.1:p.Met707Thr
XM_011509645.3:c.2051T>C (ADAMTSL4)	XP_011507947.1:p.Met684Thr
XM_011509648.3:c.2021T>C (ADAMTSL4)	XP_011507950.1:p.Met674Thr
XM_011509649.3:c.2120T>C (ADAMTSL4)	XP_011507951.1:p.Met707Thr
XM_011509650.3:c.2120T>C (ADAMTSL4)	XP_011507952.1:p.Met707Thr
XM_011509651.2:c.629T>C (ADAMTSL4)	XP_011507953.1:p.Met210Thr
XM_011509652.2:c.629T>C (ADAMTSL4)	XP_011507954.1:p.Met210Thr
XM_017001506.2:c.2021T>C (ADAMTSL4)	XP_016856995.1:p.Met674Thr
XM_017001507.1:c.365T>C (ADAMTSL4)	XP_016856996.1:p.Met122Thr
XR_001737242.2:n.2105T>C (ADAMTSL4)
XR_921844.3:n.2278T>C (ADAMTSL4)
NM_001288607.2:c.1857-22T>C (ADAMTSL4)	NP_001275536.1:n.1857-22T>C
NM_025008.5:c.1952T>C (ADAMTSL4)	NP_079284.2:p.Met651Thr
NM_001288608.2:c.2021T>C (ADAMTSL4)	NP_001275537.1:p.Met674Thr
NM_001378596.1:c.1952T>C (ADAMTSL4)	NP_001365525.1:p.Met651Thr
NM_019032.6:c.1952T>C (ADAMTSL4) MANE Select	NP_061905.2:p.Met651Thr