Canonical Allele Identifier: CA395330462
Community Standard Title: NM_015202.5(KATNIP):c.4133+1G>A
Gene: KATNIP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.27770019G>A , CM000678.2:g.27770019G>A GRCh38
NC_000016.9:g.27781340G>A , CM000678.1:g.27781340G>A GRCh37
NC_000016.8:g.27688841G>A NCBI36
NG_046731.1:g.224873G>A

Transcript Alleles

HGVS Amino-acid Change
NM_015202.5:c.4133+1G>A MANE Select NP_056017.4:n.4133+1G>A
ENST00000261588.10:c.4133+1G>A MANE Select ENSP00000261588.4:n.4133+1G>A
NM_015202.2:c.4133+1G>A NP_056017.2:n.4133+1G>A
NM_015202.3:c.4133+1G>A NP_056017.3:n.4133+1G>A
NM_015202.4:c.4133+1G>A NP_056017.3:n.4133+1G>A
ENST00000261588.8:c.4133+1G>A ENSP00000261588.4:n.4133+1G>A
ENST00000261588.9:c.4133+1G>A ENSP00000261588.4:n.4133+1G>A
XM_005255201.2:c.4316+1G>A XP_005255258.1:n.4316+1G>A
XM_005255201.3:c.4316+1G>A XP_005255258.1:n.4316+1G>A
XM_005255202.2:c.4262+1G>A XP_005255259.1:n.4262+1G>A
XM_005255202.3:c.4262+1G>A XP_005255259.1:n.4262+1G>A
XM_005255203.2:c.4187+1G>A XP_005255260.1:n.4187+1G>A
XM_005255203.3:c.4187+1G>A XP_005255260.1:n.4187+1G>A
XM_005255207.2:c.3011+1G>A XP_005255264.1:n.3011+1G>A
XM_005255208.2:c.2912+1G>A XP_005255265.1:n.2912+1G>A
XM_006721025.2:c.4055+1G>A XP_006721088.1:n.4055+1G>A
XM_006721025.3:c.4055+1G>A XP_006721088.1:n.4055+1G>A
XM_011545773.1:c.4238+1G>A XP_011544075.1:n.4238+1G>A
XM_011545773.2:c.4238+1G>A XP_011544075.1:n.4238+1G>A
XM_011545774.1:c.4238+1G>A XP_011544076.1:n.4238+1G>A
XM_011545774.2:c.4238+1G>A XP_011544076.1:n.4238+1G>A
XM_011545775.1:c.4196+1G>A XP_011544077.1:n.4196+1G>A
XM_011545775.2:c.4196+1G>A XP_011544077.1:n.4196+1G>A
XM_011545776.1:c.4184+1G>A XP_011544078.1:n.4184+1G>A
XM_011545776.2:c.4184+1G>A XP_011544078.1:n.4184+1G>A
XM_011545777.1:c.2237+1G>A XP_011544079.1:n.2237+1G>A
XM_011545777.2:c.2237+1G>A XP_011544079.1:n.2237+1G>A
XM_017023085.1:c.4067+1G>A XP_016878574.1:n.4067+1G>A
XM_017023086.1:c.4055+1G>A XP_016878575.1:n.4055+1G>A
XM_017023087.1:c.4001+1G>A XP_016878576.1:n.4001+1G>A
XM_017023088.1:c.3011+1G>A XP_016878577.1:n.3011+1G>A
XM_024450216.1:c.4130+1G>A XP_024305984.1:n.4130+1G>A
XM_024450217.1:c.3650+1G>A XP_024305985.1:n.3650+1G>A