Canonical Allele Identifier: CA5190258

Gene: PTBP3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.112223964G>A , CM000671.2:g.112223964G>A	GRCh38
NC_000009.11:g.114986244G>A , CM000671.1:g.114986244G>A	GRCh37
NC_000009.10:g.114026065G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001163788.4:c.1462C>T MANE Select	NP_001157260.1:p.Leu488Phe
ENST00000374257.6:c.1462C>T MANE Select	ENSP00000363375.1:p.Leu488Phe
NM_001163788.2:c.1462C>T	NP_001157260.1:p.Leu488Phe
NM_001163790.2:c.1555C>T	NP_001157262.1:p.Leu519Phe
NM_001244896.1:c.1261C>T	NP_001231825.1:p.Leu421Phe
NM_001244896.2:c.1261C>T	NP_001231825.1:p.Leu421Phe
NM_001244897.1:c.1442+169C>T	NP_001231826.1:n.1442+169C>T
NM_001244897.2:c.1442+169C>T	NP_001231826.1:n.1442+169C>T
NM_001244898.1:c.1564C>T	NP_001231827.1:p.Leu522Phe
NM_001375918.1:c.1453C>T	NP_001362847.1:p.Leu485Phe
NM_001375920.1:c.1246C>T	NP_001362849.1:p.Leu416Phe
NM_005156.6:c.1546C>T	NP_005147.3:p.Leu516Phe
NM_005156.7:c.1546C>T	NP_005147.3:p.Leu516Phe
ENST00000334318.10:c.1555C>T	ENSP00000334499.6:p.Leu519Phe
ENST00000343327.6:c.1261C>T	ENSP00000340705.2:p.Leu421Phe
ENST00000374255.6:c.1546C>T	ENSP00000363373.2:p.Leu516Phe
ENST00000374257.5:c.1462C>T	ENSP00000363375.1:p.Leu488Phe
ENST00000458258.5:c.1564C>T	ENSP00000414921.1:p.Leu522Phe
XM_005252324.2:c.1246C>T	XP_005252381.1:p.Leu416Phe
XM_006717343.2:c.1564C>T	XP_006717406.1:p.Leu522Phe
XM_006717346.1:c.1453C>T	XP_006717409.1:p.Leu485Phe
XM_011519265.1:c.1573C>T	XP_011517567.1:p.Leu525Phe
XM_011519266.1:c.1453C>T	XP_011517568.1:p.Leu485Phe
XM_011519267.1:c.1453C>T	XP_011517569.1:p.Leu485Phe
XM_017015365.1:c.1246C>T	XP_016870854.1:p.Leu416Phe
XM_024447722.1:c.1261C>T	XP_024303490.1:p.Leu421Phe