Canonical Allele Identifier: CA343819498
Community Standard Title: NM_001366446.1(RABGAP1L):c.1710+54739G>A
Gene: RABGAP1L HGNC NCBI
GPR52 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.174448884G>A , CM000663.2:g.174448884G>A GRCh38
NC_000001.10:g.174418022G>A , CM000663.1:g.174418022G>A GRCh37
NC_000001.9:g.172684645G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001366446.1:c.1710+54739G>A (RABGAP1L) MANE Select NP_001353375.1:n.1710+54739G>A
NM_005684.5:c.773G>A (GPR52) MANE Select NP_005675.3:p.Ser258Asn
ENST00000367685.5:c.773G>A (GPR52) MANE Select ENSP00000356658.2:p.Ser258Asn
ENST00000681986.1:c.1710+54739G>A (RABGAP1L) MANE Select ENSP00000507884.1:n.1710+54739G>A
NM_001366445.1:c.1599+54739G>A (RABGAP1L) NP_001353374.1:n.1599+54739G>A
NM_001366447.1:c.1599+54739G>A (RABGAP1L) NP_001353376.1:n.1599+54739G>A
NM_001366448.1:c.1710+54739G>A (RABGAP1L) NP_001353377.1:n.1710+54739G>A
NM_001366449.1:c.651+54739G>A (RABGAP1L) NP_001353378.1:n.651+54739G>A
NM_005684.4:c.773G>A (GPR52) NP_005675.3:p.Ser258Asn
NM_014857.4:c.1710+54739G>A (RABGAP1L) NP_055672.3:n.1710+54739G>A
NM_014857.5:c.1710+54739G>A (RABGAP1L) NP_055672.3:n.1710+54739G>A
NR_158982.1:n.1881+54739G>A (RABGAP1L)
ENST00000251507.8:c.1710+54739G>A (RABGAP1L) ENSP00000251507.4:n.1710+54739G>A
ENST00000357444.10:c.1599+54739G>A (RABGAP1L) ENSP00000350027.6:n.1599+54739G>A
ENST00000367685.3:c.773G>A (GPR52) ENSP00000356658.2:p.Ser258Asn
ENST00000367690.5:c.651+54739G>A (RABGAP1L) ENSP00000489605.1:n.651+54739G>A
ENST00000526253.1:n.325+54739G>A (RABGAP1L)
XM_005245680.1:c.1710+54739G>A (RABGAP1L) XP_005245737.1:n.1710+54739G>A
XM_005245681.1:c.1599+54739G>A (RABGAP1L) XP_005245738.1:n.1599+54739G>A
XM_005245681.2:c.1599+54739G>A (RABGAP1L) XP_005245738.1:n.1599+54739G>A
XM_006711693.1:c.1710+54739G>A (RABGAP1L) XP_006711756.1:n.1710+54739G>A
XM_011510223.1:c.1710+54739G>A (RABGAP1L) XP_011508525.1:n.1710+54739G>A
XM_011510223.2:c.1710+54739G>A (RABGAP1L) XP_011508525.1:n.1710+54739G>A
XR_922003.1:n.1917+54739G>A (RABGAP1L)
XR_922004.1:n.1917+54739G>A (RABGAP1L)