Canonical Allele Identifier: CA3500256

Gene: ABLIM3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149242532C>T , CM000667.2:g.149242532C>T	GRCh38
NC_000005.9:g.148622095C>T , CM000667.1:g.148622095C>T	GRCh37
NC_000005.8:g.148602288C>T	NCBI36
NG_051566.1:g.106086C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014945.5:c.1345C>T MANE Select	NP_055760.1:p.Arg449Trp
ENST00000309868.12:c.1345C>T MANE Select	ENSP00000310309.7:p.Arg449Trp
NM_001301015.1:c.1345C>T	NP_001287944.1:p.Arg449Trp
NM_001301015.2:c.1345C>T	NP_001287944.1:p.Arg449Trp
NM_001301015.3:c.1345C>T	NP_001287944.1:p.Arg449Trp
NM_001301018.1:c.1246C>T	NP_001287947.1:p.Arg416Trp
NM_001301018.2:c.1246C>T	NP_001287947.1:p.Arg416Trp
NM_001301018.3:c.1246C>T	NP_001287947.1:p.Arg416Trp
NM_001301027.1:c.1043-2349C>T	NP_001287956.1:n.1043-2349C>T
NM_001301027.2:c.1043-2349C>T	NP_001287956.1:n.1043-2349C>T
NM_001301028.1:c.1019-2349C>T	NP_001287957.1:n.1019-2349C>T
NM_001301028.2:c.1019-2349C>T	NP_001287957.1:n.1019-2349C>T
NM_001301028.3:c.1019-2349C>T	NP_001287957.1:n.1019-2349C>T
NM_001345858.1:c.1205-2349C>T	NP_001332787.1:n.1205-2349C>T
NM_001345858.2:c.1205-2349C>T	NP_001332787.1:n.1205-2349C>T
NM_001345859.1:c.1060C>T	NP_001332788.1:p.Arg354Trp
NM_001345859.2:c.1060C>T	NP_001332788.1:p.Arg354Trp
NM_001345860.1:c.1019-2349C>T	NP_001332789.1:n.1019-2349C>T
NM_001345860.2:c.1019-2349C>T	NP_001332789.1:n.1019-2349C>T
NM_001345861.1:c.1060C>T	NP_001332790.1:p.Arg354Trp
NM_001345861.2:c.1060C>T	NP_001332790.1:p.Arg354Trp
NM_001370417.1:c.1246C>T	NP_001357346.1:p.Arg416Trp
NM_001370418.1:c.1019-2349C>T	NP_001357347.1:n.1019-2349C>T
NM_014945.3:c.1345C>T	NP_055760.1:p.Arg449Trp
NM_014945.4:c.1345C>T	NP_055760.1:p.Arg449Trp
ENST00000309868.11:c.1345C>T	ENSP00000310309.7:p.Arg449Trp
ENST00000326685.11:c.1060C>T	ENSP00000315841.7:p.Arg354Trp
ENST00000504238.5:c.1019-2349C>T	ENSP00000421183.1:n.1019-2349C>T
ENST00000506113.5:c.1345C>T	ENSP00000425394.1:p.Arg449Trp
ENST00000508983.5:c.1246C>T	ENSP00000420855.1:p.Arg416Trp
ENST00000514212.5:n.505C>T
ENST00000515171.5:c.*642-2349C>T	ENSP00000421002.1:n.*642-2349C>T
XM_005268392.1:c.1246C>T	XP_005268449.1:p.Arg416Trp
XM_005268393.1:c.1205-2349C>T	XP_005268450.1:n.1205-2349C>T
XM_005268394.1:c.1159C>T	XP_005268451.1:p.Arg387Trp
XM_005268394.2:c.1159C>T	XP_005268451.1:p.Arg387Trp
XM_005268395.1:c.1060C>T	XP_005268452.1:p.Arg354Trp
XM_005268396.1:c.1019-2349C>T	XP_005268453.1:n.1019-2349C>T
XM_024446003.1:c.1246C>T	XP_024301771.1:p.Arg416Trp
XM_024446004.1:c.1205-2349C>T	XP_024301772.1:n.1205-2349C>T
XM_024446005.1:c.1019-2349C>T	XP_024301773.1:n.1019-2349C>T