Canonical Allele Identifier: CA216220212

Gene: LSP1

Linked Data

• dbSNP Id: rs761235196
• gnomAD v4: 11-1887553-C-G
• MyVariant Identifiers: chr11:g.1908783C>G (hg19) ; chr11:g.1887553C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1887553C>G , CM000673.2:g.1887553C>G	GRCh38
NC_000011.9:g.1908783C>G , CM000673.1:g.1908783C>G	GRCh37
NC_000011.8:g.1865359C>G	NCBI36
NG_011509.1:g.39584C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311604.8:c.1010C>G MANE Select	ENSP00000308383.4:p.Pro337Arg
ENST00000311604.7:c.1010C>G	ENSP00000308383.3:p.Pro337Arg
ENST00000381775.5:c.1394C>G	ENSP00000371194.1:p.Pro465Arg
ENST00000405957.6:c.824C>G	ENSP00000383932.2:p.Pro275Arg
ENST00000406638.6:c.824C>G	ENSP00000384022.2:p.Pro275Arg
ENST00000472974.5:n.880C>G
ENST00000485341.5:n.1506C>G
ENST00000612798.4:c.824C>G	ENSP00000484140.1:p.Pro275Arg
NM_001013253.1:c.824C>G	NP_001013271.1:p.Pro275Arg
NM_001013254.1:c.824C>G	NP_001013272.1:p.Pro275Arg
NM_001013255.1:c.824C>G	NP_001013273.1:p.Pro275Arg
NM_001242932.1:c.1394C>G	NP_001229861.1:p.Pro465Arg
NM_001289005.1:c.824C>G	NP_001275934.1:p.Pro275Arg
NM_002339.2:c.1010C>G	NP_002330.1:p.Pro337Arg
NM_001013253.2:c.824C>G	NP_001013271.1:p.Pro275Arg
NM_002339.3:c.1010C>G MANE Select	NP_002330.1:p.Pro337Arg
NM_001242932.2:c.1394C>G	NP_001229861.1:p.Pro465Arg
NM_001289005.2:c.824C>G	NP_001275934.1:p.Pro275Arg