Canonical Allele Identifier: CA1078457

Gene: ADAMTSL4 ADAMTSL4-AS2

Linked Data

• dbSNP Id: rs768995007
• ExAC: 1:150529688 C / T
• gnomAD v2: 1-150529688-C-T
• gnomAD v4: 1-150557212-C-T
• MyVariant Identifiers: chr1:g.150529688C>T (hg19) ; chr1:g.150557212C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150557212C>T , CM000663.2:g.150557212C>T	GRCh38
NC_000001.10:g.150529688C>T , CM000663.1:g.150529688C>T	GRCh37
NC_000001.9:g.148796312C>T	NCBI36
NG_012172.1:g.12791C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271643.9:c.1924C>T (ADAMTSL4) MANE Select	ENSP00000271643.4:p.Leu642Phe
ENST00000674043.1:c.1993C>T (ADAMTSL4)	ENSP00000501295.1:p.Leu665Phe
ENST00000674058.1:c.1857-50C>T (ADAMTSL4)	ENSP00000501255.1:n.1857-50C>T
ENST00000271643.8:c.1924C>T (ADAMTSL4)	ENSP00000271643.4:p.Leu642Phe
ENST00000369038.6:c.1924C>T (ADAMTSL4)	ENSP00000358034.2:p.Leu642Phe
ENST00000369039.9:c.1993C>T (ADAMTSL4)	ENSP00000358035.5:p.Leu665Phe
ENST00000369041.9:c.1924C>T (ADAMTSL4)	ENSP00000358037.5:p.Leu642Phe
ENST00000622417.4:c.538C>T (ADAMTSL4)	ENSP00000477897.1:p.Leu180Phe
NM_001288607.1:c.1857-50C>T (ADAMTSL4)	NP_001275536.1:n.1857-50C>T
NM_001288608.1:c.1993C>T (ADAMTSL4)	NP_001275537.1:p.Leu665Phe
NM_019032.5:c.1924C>T (ADAMTSL4)	NP_061905.2:p.Leu642Phe
NM_025008.4:c.1924C>T (ADAMTSL4)	NP_079284.2:p.Leu642Phe
XM_011509644.1:c.2092C>T (ADAMTSL4)	XP_011507946.1:p.Leu698Phe
XM_011509645.1:c.2023C>T (ADAMTSL4)	XP_011507947.1:p.Leu675Phe
XM_011509646.1:c.1993C>T (ADAMTSL4)	XP_011507948.1:p.Leu665Phe
XM_011509647.1:c.1993C>T (ADAMTSL4)	XP_011507949.1:p.Leu665Phe
XM_011509648.1:c.1993C>T (ADAMTSL4)	XP_011507950.1:p.Leu665Phe
XM_011509649.1:c.2092C>T (ADAMTSL4)	XP_011507951.1:p.Leu698Phe
XM_011509650.1:c.2092C>T (ADAMTSL4)	XP_011507952.1:p.Leu698Phe
XM_011509651.1:c.601C>T (ADAMTSL4)	XP_011507953.1:p.Leu201Phe
XM_011509652.1:c.601C>T (ADAMTSL4)	XP_011507954.1:p.Leu201Phe
XR_921844.1:n.2277C>T (ADAMTSL4)
XR_922133.1:n.139+481G>A (ADAMTSL4-AS2)
XM_011509644.3:c.2092C>T (ADAMTSL4)	XP_011507946.1:p.Leu698Phe
XM_011509645.3:c.2023C>T (ADAMTSL4)	XP_011507947.1:p.Leu675Phe
XM_011509648.3:c.1993C>T (ADAMTSL4)	XP_011507950.1:p.Leu665Phe
XM_011509649.3:c.2092C>T (ADAMTSL4)	XP_011507951.1:p.Leu698Phe
XM_011509650.3:c.2092C>T (ADAMTSL4)	XP_011507952.1:p.Leu698Phe
XM_011509651.2:c.601C>T (ADAMTSL4)	XP_011507953.1:p.Leu201Phe
XM_011509652.2:c.601C>T (ADAMTSL4)	XP_011507954.1:p.Leu201Phe
XM_017001506.2:c.1993C>T (ADAMTSL4)	XP_016856995.1:p.Leu665Phe
XM_017001507.1:c.337C>T (ADAMTSL4)	XP_016856996.1:p.Leu113Phe
XR_001737242.2:n.2077C>T (ADAMTSL4)
XR_921844.3:n.2250C>T (ADAMTSL4)
NM_001288607.2:c.1857-50C>T (ADAMTSL4)	NP_001275536.1:n.1857-50C>T
NM_025008.5:c.1924C>T (ADAMTSL4)	NP_079284.2:p.Leu642Phe
NM_001288608.2:c.1993C>T (ADAMTSL4)	NP_001275537.1:p.Leu665Phe
NM_001378596.1:c.1924C>T (ADAMTSL4)	NP_001365525.1:p.Leu642Phe
NM_019032.6:c.1924C>T (ADAMTSL4) MANE Select	NP_061905.2:p.Leu642Phe