Canonical Allele Identifier: CA1263282
Community Standard Title: NM_004673.4(ANGPTL1):c.11T>C (p.Phe4Ser)
Gene: RALGPS2 HGNC NCBI
ANGPTL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.178865766A>G , CM000663.2:g.178865766A>G GRCh38
NC_000001.10:g.178834901A>G , CM000663.1:g.178834901A>G GRCh37
NC_000001.9:g.177101524A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_004673.4:c.11T>C (ANGPTL1) MANE Select NP_004664.1:p.Phe4Ser
NM_152663.5:c.608-11732A>G (RALGPS2) MANE Select NP_689876.2:n.608-11732A>G
ENST00000234816.7:c.11T>C (ANGPTL1) MANE Select ENSP00000234816.2:p.Phe4Ser
ENST00000367635.8:c.608-11732A>G (RALGPS2) MANE Select ENSP00000356607.3:n.608-11732A>G
NM_001286247.1:c.608-11732A>G (RALGPS2) NP_001273176.1:n.608-11732A>G
NM_001286247.2:c.608-11732A>G (RALGPS2) NP_001273176.1:n.608-11732A>G
NM_001376763.1:c.11T>C (ANGPTL1) NP_001363692.1:p.Phe4Ser
NM_001400042.1:c.608-11732A>G (RALGPS2) NP_001386971.1:n.608-11732A>G
NM_004673.3:c.11T>C (ANGPTL1) NP_004664.1:p.Phe4Ser
NM_152663.4:c.608-11732A>G (RALGPS2) NP_689876.2:n.608-11732A>G
NR_174383.1:n.740-11732A>G (RALGPS2)
NR_174384.1:n.740-11732A>G (RALGPS2)
ENST00000234816.6:c.11T>C (ANGPTL1) ENSP00000234816.2:p.Phe4Ser
ENST00000324778.5:c.503-11732A>G (RALGPS2) ENSP00000313613.5:n.503-11732A>G
ENST00000367629.1:c.11T>C (ANGPTL1) ENSP00000356601.1:p.Phe4Ser
ENST00000367634.6:c.608-11732A>G (RALGPS2) ENSP00000356606.2:n.608-11732A>G
ENST00000367634.7:c.608-11732A>G (RALGPS2) ENSP00000356606.2:n.608-11732A>G
ENST00000367635.7:c.608-11732A>G (RALGPS2) ENSP00000356607.3:n.608-11732A>G
ENST00000444255.1:c.11T>C (ANGPTL1) ENSP00000392023.1:p.Phe4Ser
ENST00000495034.5:n.946-11732A>G (RALGPS2)
XM_005245577.2:c.11T>C (ANGPTL1) XP_005245634.1:p.Phe4Ser
XM_005245577.3:c.11T>C (ANGPTL1) XP_005245634.1:p.Phe4Ser
XM_006711410.2:c.608-11732A>G (RALGPS2) XP_006711473.1:n.608-11732A>G
XM_006711410.3:c.608-11732A>G (RALGPS2) XP_006711473.1:n.608-11732A>G
XM_006711411.2:c.8-11732A>G (RALGPS2) XP_006711474.1:n.8-11732A>G
XM_006711411.3:c.8-11732A>G (RALGPS2) XP_006711474.1:n.8-11732A>G
XM_011509688.1:c.608-11732A>G (RALGPS2) XP_011507990.1:n.608-11732A>G
XM_017001591.2:c.8-11732A>G (RALGPS2) XP_016857080.1:n.8-11732A>G
XR_002957991.1:n.253T>C (ANGPTL1)
XR_241102.3:n.760T>C (ANGPTL1)
XR_241102.5:n.484T>C (ANGPTL1)