Canonical Allele Identifier: CA3354212
Gene: LNPEP HGNC NCBI

Linked Data

dbSNP Id: rs778308598
ExAC: 5:96350722 G / A
gnomAD v2: 5-96350722-G-A
gnomAD v4: 5-97015018-G-A
MyVariant Identifiers: chr5:g.96350722G>A (hg19) chr5:g.97015018G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.97015018G>A , CM000667.2:g.97015018G>A GRCh38
NC_000005.9:g.96350722G>A , CM000667.1:g.96350722G>A GRCh37
NC_000005.8:g.96376478G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000231368.10:c.2299G>A MANE Select ENSP00000231368.5:p.Glu767Lys
ENST00000231368.9:c.2299G>A ENSP00000231368.5:p.Glu767Lys
ENST00000395770.3:c.2257G>A ENSP00000379117.3:p.Glu753Lys
NM_005575.2:c.2299G>A NP_005566.2:p.Glu767Lys
NM_175920.3:c.2257G>A NP_787116.2:p.Glu753Lys
XM_024446045.1:c.2299G>A XP_024301813.1:p.Glu767Lys
NM_005575.3:c.2299G>A MANE Select NP_005566.2:p.Glu767Lys
NM_175920.4:c.2257G>A NP_787116.2:p.Glu753Lys
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