Canonical Allele Identifier: CA53999936

Gene: LIMS1

Linked Data

• dbSNP Id: rs900287970
• gnomAD v3: 2-108558060-T-G
• gnomAD v4: 2-108558060-T-G
• MyVariant Identifiers: chr2:g.109174516T>G (hg19) ; chr2:g.108558060T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108558060T>G , CM000664.2:g.108558060T>G	GRCh38
NC_000002.11:g.109174516T>G , CM000664.1:g.109174516T>G	GRCh37
NC_000002.10:g.108540948T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000544547.6:c.32+23466T>G MANE Select	ENSP00000437912.1:n.32+23466T>G
ENST00000695516.1:c.59+24252T>G	ENSP00000511979.1:n.59+24252T>G
ENST00000695517.1:c.32+23466T>G	ENSP00000511980.1:n.32+23466T>G
ENST00000428064.5:c.32+23466T>G	ENSP00000390862.1:n.32+23466T>G
ENST00000544547.5:c.32+23466T>G	ENSP00000437912.1:n.32+23466T>G
NM_001193483.2:c.32+23466T>G	NP_001180412.1:n.32+23466T>G
XM_005263949.1:c.32+23466T>G	XP_005264006.1:n.32+23466T>G
XM_017004092.1:c.-84+23466T>G	XP_016859581.1:n.-84+23466T>G
NM_001193483.3:c.32+23466T>G MANE Select	NP_001180412.1:n.32+23466T>G
NM_001371495.1:c.32+23466T>G	NP_001358424.1:n.32+23466T>G
NM_001371496.1:c.59+24252T>G	NP_001358425.1:n.59+24252T>G
NM_001394896.1:c.32+23466T>G	NP_001381825.1:n.32+23466T>G
NM_001394898.1:c.59+24252T>G	NP_001381827.1:n.59+24252T>G