Canonical Allele Identifier: CA403933381
Community Standard Title: NM_018381.4(SHFL):c.*409C>T
Gene: ANGPTL6 HGNC NCBI
SHFL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10092711C>T , CM000681.2:g.10092711C>T GRCh38
NC_000019.9:g.10203387C>T , CM000681.1:g.10203387C>T GRCh37
NC_000019.8:g.10064387C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_018381.4:c.*409C>T (SHFL) MANE Select NP_060851.2:n.*409C>T
NM_031917.3:c.1291G>A (ANGPTL6) MANE Select NP_114123.2:p.Val431Met
ENST00000253109.5:c.1291G>A (ANGPTL6) MANE Select ENSP00000253109.3:p.Val431Met
ENST00000253110.16:c.*409C>T (SHFL) MANE Select ENSP00000253110.10:n.*409C>T
NM_001308277.1:c.*409C>T (SHFL) NP_001295206.1:n.*409C>T
NM_001308277.2:c.*409C>T (SHFL) NP_001295206.1:n.*409C>T
NM_001321411.1:c.1291G>A (ANGPTL6) NP_001308340.1:p.Val431Met
NM_001321411.2:c.1291G>A (ANGPTL6) NP_001308340.1:p.Val431Met
NM_001387347.1:c.1291G>A (ANGPTL6) NP_001374276.1:p.Val431Met
NM_001387348.1:c.1291G>A (ANGPTL6) NP_001374277.1:p.Val431Met
NM_018381.2:c.*409C>T (SHFL) NP_060851.2:n.*409C>T
NM_018381.3:c.*409C>T (SHFL) NP_060851.2:n.*409C>T
NM_031917.2:c.1291G>A (ANGPTL6) NP_114123.2:p.Val431Met
ENST00000253109.4:c.1291G>A (ANGPTL6) ENSP00000253109.3:p.Val431Met
ENST00000253110.15:c.*409C>T (SHFL) ENSP00000253110.10:n.*409C>T
ENST00000397881.7:c.*409C>T (SHFL) ENSP00000380978.3:n.*409C>T
ENST00000585919.5:n.1538C>T (SHFL)
ENST00000586730.1:n.1122C>T (SHFL)
ENST00000589181.5:c.1171G>A (ANGPTL6) ENSP00000465597.1:p.Val391Met
ENST00000591813.5:c.*409C>T (SHFL) ENSP00000467182.1:n.*409C>T
ENST00000592641.5:c.1291G>A (ANGPTL6) ENSP00000467930.1:p.Val431Met
XM_005260091.2:c.1534G>A (ANGPTL6) XP_005260148.1:p.Val512Met
XM_005260091.4:c.1534G>A (ANGPTL6) XP_005260148.1:p.Val512Met
XM_011528121.1:c.*409C>T (SHFL) XP_011526423.1:n.*409C>T
XM_011528347.1:c.1291G>A (ANGPTL6) XP_011526649.1:p.Val431Met
XM_011528347.3:c.1291G>A (ANGPTL6) XP_011526649.1:p.Val431Met
XM_011528348.1:c.1492G>A (ANGPTL6) XP_011526650.1:p.Val498Met
XM_011528348.3:c.1492G>A (ANGPTL6) XP_011526650.1:p.Val498Met
XM_011528349.1:c.1492G>A (ANGPTL6) XP_011526651.1:p.Val498Met
XM_011528349.3:c.1492G>A (ANGPTL6) XP_011526651.1:p.Val498Met
XM_011528350.1:c.1291G>A (ANGPTL6) XP_011526652.1:p.Val431Met
XM_011528350.3:c.1291G>A (ANGPTL6) XP_011526652.1:p.Val431Met
XM_017027347.2:c.1291G>A (ANGPTL6) XP_016882836.1:p.Val431Met
XR_002958369.1:n.1798G>A (ANGPTL6)