Canonical Allele Identifier: CA3354199
Gene: LNPEP HGNC NCBI

Linked Data

dbSNP Id: rs745309798
gnomAD v2: 5-96350626-G-A
gnomAD v3: 5-97014922-G-A
gnomAD v4: 5-97014922-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.97014922G>A , CM000667.2:g.97014922G>A GRCh38
NC_000005.9:g.96350626G>A , CM000667.1:g.96350626G>A GRCh37
NC_000005.8:g.96376382G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000231368.10:c.2220-17G>A MANE Select ENSP00000231368.5:n.2220-17G>A
ENST00000231368.9:c.2220-17G>A ENSP00000231368.5:n.2220-17G>A
ENST00000395770.3:c.2178-17G>A ENSP00000379117.3:n.2178-17G>A
NM_005575.2:c.2220-17G>A NP_005566.2:n.2220-17G>A
NM_175920.3:c.2178-17G>A NP_787116.2:n.2178-17G>A
XM_024446045.1:c.2220-17G>A XP_024301813.1:n.2220-17G>A
NM_005575.3:c.2220-17G>A MANE Select NP_005566.2:n.2220-17G>A
NM_175920.4:c.2178-17G>A NP_787116.2:n.2178-17G>A