Canonical Allele Identifier: CA211818674
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88583361G>A , CM000672.2:g.88583361G>A GRCh38
NC_000010.10:g.90343118G>A , CM000672.1:g.90343118G>A GRCh37
NC_000010.9:g.90333098G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000371947.7:c.-171C>T (RNLS) ENSP00000361015.3:n.-171C>T
XM_005269948.1:c.-171C>T (RNLS) XP_005270005.1:n.-171C>T
XM_005269950.2:c.-171C>T (RNLS) XP_005270007.1:n.-171C>T
XM_006717635.1:c.-878G>A (LIPJ) XP_006717698.1:n.-878G>A
XM_011539314.1:c.-1390G>A (LIPJ) XP_011537616.1:n.-1390G>A
XM_011539317.1:c.-1390G>A (LIPJ) XP_011537619.1:n.-1390G>A
XM_005269946.2:c.-171C>T (RNLS) XP_005270003.1:n.-171C>T
XM_005269947.2:c.-171C>T (RNLS) XP_005270004.1:n.-171C>T
XM_005269948.3:c.-171C>T (RNLS) XP_005270005.1:n.-171C>T
XM_005269949.5:c.-171C>T (RNLS) XP_005270006.1:n.-171C>T
XM_005269950.4:c.-171C>T (RNLS) XP_005270007.1:n.-171C>T
XM_006717635.3:c.-878G>A (LIPJ) XP_006717698.1:n.-878G>A
XM_011539314.3:c.-1390G>A (LIPJ) XP_011537616.1:n.-1390G>A
XM_011539317.3:c.-1390G>A (LIPJ) XP_011537619.1:n.-1390G>A
XM_011539924.3:c.-171C>T (RNLS) XP_011538226.1:n.-171C>T
XM_011539927.3:c.-171C>T (RNLS) XP_011538229.1:n.-171C>T
XM_017015740.2:c.-1390G>A (LIPJ) XP_016871229.1:n.-1390G>A
XM_017016380.2:c.-171C>T (RNLS) XP_016871869.1:n.-171C>T
XM_017016381.2:c.-171C>T (RNLS) XP_016871870.1:n.-171C>T
XM_017016382.2:c.-171C>T (RNLS) XP_016871871.1:n.-171C>T
XM_017016383.2:c.-171C>T (RNLS) XP_016871872.1:n.-171C>T
XM_017016384.2:c.-171C>T (RNLS) XP_016871873.1:n.-171C>T
XM_024448063.1:c.-171C>T (RNLS) XP_024303831.1:n.-171C>T
XR_001747122.2:n.1120C>T (RNLS)
NR_172141.1:n.455G>A (LIPJ)