Canonical Allele Identifier: CA122978808
Gene: LNPEP HGNC NCBI

Linked Data

dbSNP Id: rs181988039
gnomAD v2: 5-96320361-T-C
gnomAD v3: 5-96984657-T-C
gnomAD v4: 5-96984657-T-C
MyVariant Identifiers: chr5:g.96320361T>C (hg19) chr5:g.96984657T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96984657T>C , CM000667.2:g.96984657T>C GRCh38
NC_000005.9:g.96320361T>C , CM000667.1:g.96320361T>C GRCh37
NC_000005.8:g.96346117T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000231368.10:c.861-423T>C MANE Select ENSP00000231368.5:n.861-423T>C
ENST00000231368.9:c.861-423T>C ENSP00000231368.5:n.861-423T>C
ENST00000395770.3:c.819-423T>C ENSP00000379117.3:n.819-423T>C
NM_005575.2:c.861-423T>C NP_005566.2:n.861-423T>C
NM_175920.3:c.819-423T>C NP_787116.2:n.819-423T>C
XM_024446045.1:c.861-423T>C XP_024301813.1:n.861-423T>C
NM_005575.3:c.861-423T>C MANE Select NP_005566.2:n.861-423T>C
NM_175920.4:c.819-423T>C NP_787116.2:n.819-423T>C
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