Canonical Allele Identifier: CA294903

Gene: NSD1

Linked Data

• ClinVar Variation Id: 159344
• ClinVar RCV Id: RCV000760933 ; RCV003231244
• dbSNP Id: rs587784126
• MyVariant Identifiers: chr5:g.176678842G>T (hg19) ; chr5:g.177251841G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177251841G>T , CM000667.2:g.177251841G>T	GRCh38
NC_000005.9:g.176678842G>T , CM000667.1:g.176678842G>T	GRCh37
NC_000005.8:g.176611448G>T	NCBI36
NG_009821.1:g.123763G>T , LRG_512:g.123763G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.3880G>T	ENSP00000423372.3:p.Glu1294Ter
ENST00000347982.9:c.3880G>T	ENSP00000343209.5:p.Glu1294Ter
ENST00000354179.9:c.3880G>T	ENSP00000346111.5:p.Glu1294Ter
ENST00000685206.1:n.4336G>T
ENST00000686993.1:c.3880G>T	ENSP00000510020.1:p.Glu1294Ter
ENST00000687453.1:c.4444G>T	ENSP00000508426.1:p.Glu1482Ter
ENST00000688613.1:n.4150G>T
ENST00000689345.1:c.3880G>T	ENSP00000509711.1:p.Glu1294Ter
ENST00000689549.1:n.4900G>T
ENST00000439151.7:c.4753G>T MANE Select	ENSP00000395929.2:p.Glu1585Ter
ENST00000347982.8:c.3946G>T	ENSP00000343209.4:p.Glu1316Ter
ENST00000354179.8:c.3946G>T	ENSP00000346111.4:p.Glu1316Ter
ENST00000439151.6:c.4753G>T	ENSP00000395929.2:p.Glu1585Ter
NM_022455.4:c.4753G>T , LRG_512t1:c.4753G>T	NP_071900.2:p.Glu1585Ter
NM_172349.2:c.3946G>T	NP_758859.1:p.Glu1316Ter
XM_005265959.1:c.4753G>T	XP_005266016.1:p.Glu1585Ter
XM_005265960.1:c.3946G>T	XP_005266017.1:p.Glu1316Ter
XM_005265961.1:c.3946G>T	XP_005266018.1:p.Glu1316Ter
XM_005265962.3:c.247G>T	XP_005266019.1:p.Glu83Ter
XM_011534610.1:c.4753G>T	XP_011532912.1:p.Glu1585Ter
XM_011534611.1:c.4753G>T	XP_011532913.1:p.Glu1585Ter
XM_011534612.1:c.4333G>T	XP_011532914.1:p.Glu1445Ter
XM_011534613.1:c.3697G>T	XP_011532915.1:p.Glu1233Ter
XM_011534614.1:c.4753G>T	XP_011532916.1:p.Glu1585Ter
XM_011534617.1:c.487G>T	XP_011532919.1:p.Glu163Ter
NM_001365684.1:c.3946G>T	NP_001352613.1:p.Glu1316Ter
XM_024446150.1:c.4753G>T	XP_024301918.1:p.Glu1585Ter
XM_024446151.1:c.4753G>T	XP_024301919.1:p.Glu1585Ter
XM_024446152.1:c.4753G>T	XP_024301920.1:p.Glu1585Ter
XM_024446153.1:c.4753G>T	XP_024301921.1:p.Glu1585Ter
XM_024446154.1:c.4333G>T	XP_024301922.1:p.Glu1445Ter
XM_024446155.1:c.3946G>T	XP_024301923.1:p.Glu1316Ter
XM_024446156.1:c.3946G>T	XP_024301924.1:p.Glu1316Ter
XM_024446158.1:c.3946G>T	XP_024301926.1:p.Glu1316Ter
XM_024446159.1:c.3697G>T	XP_024301927.1:p.Glu1233Ter
XM_024446160.1:c.4753G>T	XP_024301928.1:p.Glu1585Ter
XM_024446162.1:c.487G>T	XP_024301930.1:p.Glu163Ter
XM_024446163.1:c.247G>T	XP_024301931.1:p.Glu83Ter
NM_022455.5:c.4753G>T MANE Select	NP_071900.2:p.Glu1585Ter
NM_172349.3:c.3946G>T	NP_758859.1:p.Glu1316Ter