Canonical Allele Identifier: CA13082729

Gene: ADAMTSL1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.18657560A>G , CM000671.2:g.18657560A>G	GRCh38
NC_000009.11:g.18657558A>G , CM000671.1:g.18657558A>G	GRCh37
NC_000009.10:g.18647558A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001040272.6:c.835-79A>G MANE Select	NP_001035362.3:n.835-79A>G
ENST00000380548.9:c.835-79A>G MANE Select	ENSP00000369921.4:n.835-79A>G
NM_001040272.5:c.835-79A>G	NP_001035362.3:n.835-79A>G
NM_052866.4:c.835-79A>G	NP_443098.3:n.835-79A>G
NM_052866.5:c.835-79A>G	NP_443098.3:n.835-79A>G
ENST00000276935.6:c.835-79A>G	ENSP00000276935.5:n.835-79A>G
ENST00000327883.11:c.835-79A>G	ENSP00000327887.7:n.835-79A>G
ENST00000380548.8:c.835-79A>G	ENSP00000369921.4:n.835-79A>G
ENST00000380566.8:c.835-79A>G	ENSP00000369940.4:n.835-79A>G
ENST00000680146.1:c.979-79A>G	ENSP00000505591.1:n.979-79A>G
XM_011518063.1:c.1033-79A>G	XP_011516365.1:n.1033-79A>G
XM_011518063.2:c.1033-79A>G	XP_011516365.1:n.1033-79A>G
XM_011518064.1:c.988-79A>G	XP_011516366.1:n.988-79A>G
XM_011518064.3:c.988-79A>G	XP_011516366.1:n.988-79A>G
XM_011518065.1:c.955-79A>G	XP_011516367.1:n.955-79A>G
XM_011518066.1:c.385-79A>G	XP_011516368.1:n.385-79A>G
XM_017015310.1:c.991-79A>G	XP_016870799.1:n.991-79A>G
XM_017015311.1:c.1033-79A>G	XP_016870800.1:n.1033-79A>G
XM_017015312.2:c.988-79A>G	XP_016870801.1:n.988-79A>G
XM_017015313.1:c.385-79A>G	XP_016870802.1:n.385-79A>G
XM_017015314.1:c.1033-79A>G	XP_016870803.1:n.1033-79A>G