Canonical Allele Identifier: CA5815875

Gene: LSP1

Linked Data

• dbSNP Id: rs578141909
• ExAC: 11:1908734 G / T
• gnomAD v2: 11-1908734-G-T
• gnomAD v3: 11-1887504-G-T
• MyVariant Identifiers: chr11:g.1908734G>T (hg19) ; chr11:g.1887504G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1887504G>T , CM000673.2:g.1887504G>T	GRCh38
NC_000011.9:g.1908734G>T , CM000673.1:g.1908734G>T	GRCh37
NC_000011.8:g.1865310G>T	NCBI36
NG_011509.1:g.39535G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311604.8:c.961G>T MANE Select	ENSP00000308383.4:p.Val321Leu
ENST00000311604.7:c.961G>T	ENSP00000308383.3:p.Val321Leu
ENST00000381775.5:c.1345G>T	ENSP00000371194.1:p.Val449Leu
ENST00000405957.6:c.775G>T	ENSP00000383932.2:p.Val259Leu
ENST00000406638.6:c.775G>T	ENSP00000384022.2:p.Val259Leu
ENST00000472974.5:n.831G>T
ENST00000485341.5:n.1457G>T
ENST00000612798.4:c.775G>T	ENSP00000484140.1:p.Val259Leu
NM_001013253.1:c.775G>T	NP_001013271.1:p.Val259Leu
NM_001013254.1:c.775G>T	NP_001013272.1:p.Val259Leu
NM_001013255.1:c.775G>T	NP_001013273.1:p.Val259Leu
NM_001242932.1:c.1345G>T	NP_001229861.1:p.Val449Leu
NM_001289005.1:c.775G>T	NP_001275934.1:p.Val259Leu
NM_002339.2:c.961G>T	NP_002330.1:p.Val321Leu
NM_001013253.2:c.775G>T	NP_001013271.1:p.Val259Leu
NM_002339.3:c.961G>T MANE Select	NP_002330.1:p.Val321Leu
NM_001242932.2:c.1345G>T	NP_001229861.1:p.Val449Leu
NM_001289005.2:c.775G>T	NP_001275934.1:p.Val259Leu