Canonical Allele Identifier: CA216220133

Gene: LSP1

Linked Data

• dbSNP Id: rs974685665
• gnomAD v4: 11-1887496-A-G
• COSMIC: COSM5966835 ; COSM5966836
• MyVariant Identifiers: chr11:g.1908726A>G (hg19) ; chr11:g.1887496A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1887496A>G , CM000673.2:g.1887496A>G	GRCh38
NC_000011.9:g.1908726A>G , CM000673.1:g.1908726A>G	GRCh37
NC_000011.8:g.1865302A>G	NCBI36
NG_011509.1:g.39527A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311604.8:c.953A>G MANE Select	ENSP00000308383.4:p.Tyr318Cys
ENST00000311604.7:c.953A>G	ENSP00000308383.3:p.Tyr318Cys
ENST00000381775.5:c.1337A>G	ENSP00000371194.1:p.Tyr446Cys
ENST00000405957.6:c.767A>G	ENSP00000383932.2:p.Tyr256Cys
ENST00000406638.6:c.767A>G	ENSP00000384022.2:p.Tyr256Cys
ENST00000472974.5:n.823A>G
ENST00000484895.5:n.430A>G
ENST00000485341.5:n.1449A>G
ENST00000612798.4:c.767A>G	ENSP00000484140.1:p.Tyr256Cys
NM_001013253.1:c.767A>G	NP_001013271.1:p.Tyr256Cys
NM_001013254.1:c.767A>G	NP_001013272.1:p.Tyr256Cys
NM_001013255.1:c.767A>G	NP_001013273.1:p.Tyr256Cys
NM_001242932.1:c.1337A>G	NP_001229861.1:p.Tyr446Cys
NM_001289005.1:c.767A>G	NP_001275934.1:p.Tyr256Cys
NM_002339.2:c.953A>G	NP_002330.1:p.Tyr318Cys
NM_001013253.2:c.767A>G	NP_001013271.1:p.Tyr256Cys
NM_002339.3:c.953A>G MANE Select	NP_002330.1:p.Tyr318Cys
NM_001242932.2:c.1337A>G	NP_001229861.1:p.Tyr446Cys
NM_001289005.2:c.767A>G	NP_001275934.1:p.Tyr256Cys