Canonical Allele Identifier: CA338874564

Gene: NBPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21445088T>C , CM000663.2:g.21445088T>C	GRCh38
NC_000001.10:g.21771581T>C , CM000663.1:g.21771581T>C	GRCh37
NC_000001.9:g.21644168T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318249.10:c.2T>C MANE Select	ENSP00000316782.5:p.Met1Thr
ENST00000318220.10:c.2T>C	ENSP00000316739.7:p.Met1Thr
ENST00000318249.9:c.2T>C	ENSP00000316782.5:p.Met1Thr
ENST00000342104.9:c.2T>C	ENSP00000340336.5:p.Met1Thr
ENST00000434838.6:c.2T>C	ENSP00000391865.2:p.Met1Thr
ENST00000454000.6:c.2T>C	ENSP00000415711.2:p.Met1Thr
ENST00000467103.2:c.2T>C	ENSP00000479028.1:p.Met1Thr
ENST00000478653.6:n.352T>C
ENST00000485941.2:n.344T>C
ENST00000486229.5:c.2T>C	ENSP00000478530.1:p.Met1Thr
NM_001256416.2:c.2T>C	NP_001243345.1:p.Met1Thr
NM_001256417.2:c.2T>C	NP_001243346.1:p.Met1Thr
NM_032264.4:c.2T>C	NP_115640.1:p.Met1Thr
NR_046176.2:n.400T>C
XM_006710957.1:c.2T>C	XP_006711020.1:p.Met1Thr
XM_006710958.1:c.-510T>C	XP_006711021.1:n.-510T>C
XM_006710959.2:c.-312T>C	XP_006711022.1:n.-312T>C
XM_011542274.1:c.2T>C	XP_011540576.1:p.Met1Thr
XM_011542275.1:c.2T>C	XP_011540577.1:p.Met1Thr
XM_011542276.1:c.-779T>C	XP_011540578.1:n.-779T>C
XM_011542277.1:c.-754T>C	XP_011540579.1:n.-754T>C
XM_011542278.1:c.-593T>C	XP_011540580.1:n.-593T>C
XM_011542279.1:c.-465T>C	XP_011540581.1:n.-465T>C
XM_011542280.1:c.-370T>C	XP_011540582.1:n.-370T>C
XM_011542281.1:c.-312T>C	XP_011540583.1:n.-312T>C
NM_001330381.1:c.-568T>C	NP_001317310.1:n.-568T>C
XM_017002500.1:c.-696T>C	XP_016857989.1:n.-696T>C
XM_017002501.1:c.-593T>C	XP_016857990.1:n.-593T>C
XM_017002502.1:c.-510T>C	XP_016857991.1:n.-510T>C
XM_024450188.1:c.-1379T>C	XP_024305956.1:n.-1379T>C
XM_024450190.1:c.-1593T>C	XP_024305958.1:n.-1593T>C
NM_001256416.3:c.2T>C	NP_001243345.1:p.Met1Thr
NM_001256417.3:c.2T>C	NP_001243346.1:p.Met1Thr
NM_001330381.2:c.-568T>C	NP_001317310.1:n.-568T>C
NM_001377491.1:c.-510T>C	NP_001364420.1:n.-510T>C
NM_001377492.1:c.-779T>C	NP_001364421.1:n.-779T>C
NM_001377493.1:c.-754T>C	NP_001364422.1:n.-754T>C
NM_001377494.1:c.-593T>C	NP_001364423.1:n.-593T>C
NM_001377495.1:c.-1379T>C	NP_001364424.1:n.-1379T>C
NM_001377496.1:c.-696T>C	NP_001364425.1:n.-696T>C
NM_032264.6:c.2T>C MANE Select	NP_115640.1:p.Met1Thr
NR_046176.3:n.353T>C
NM_001256416.4:c.2T>C	NP_001243345.1:p.Met1Thr
NM_001256417.4:c.2T>C	NP_001243346.1:p.Met1Thr
NM_001330381.3:c.-568T>C	NP_001317310.1:n.-568T>C
NR_046176.4:n.353T>C