Canonical Allele Identifier: CA294947

Gene: NSD1

Linked Data

• ClinVar Variation Id: 159364
• ClinVar RCV Id: RCV003231264
• dbSNP Id: rs587784143
• MyVariant Identifiers: chr5:g.176696674G>A (hg19) ; chr5:g.177269673G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177269673G>A , CM000667.2:g.177269673G>A	GRCh38
NC_000005.9:g.176696674G>A , CM000667.1:g.176696674G>A	GRCh37
NC_000005.8:g.176629280G>A	NCBI36
NG_009821.1:g.141595G>A , LRG_512:g.141595G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.4502G>A	ENSP00000423372.3:p.Gly1501Glu
ENST00000347982.9:c.4502G>A	ENSP00000343209.5:p.Gly1501Glu
ENST00000354179.9:c.4502G>A	ENSP00000346111.5:p.Gly1501Glu
ENST00000503056.6:c.17G>A	ENSP00000424024.2:p.Gly6Glu
ENST00000508029.6:c.17G>A	ENSP00000425120.2:p.Gly6Glu
ENST00000685206.1:n.4958G>A
ENST00000686993.1:c.4502G>A	ENSP00000510020.1:p.Gly1501Glu
ENST00000687095.1:n.258+1955G>A
ENST00000687453.1:c.5066G>A	ENSP00000508426.1:p.Gly1689Glu
ENST00000688613.1:n.4772G>A
ENST00000689345.1:c.4502G>A	ENSP00000509711.1:p.Gly1501Glu
ENST00000689549.1:n.5522G>A
ENST00000692024.1:n.2294G>A
ENST00000439151.7:c.5375G>A MANE Select	ENSP00000395929.2:p.Gly1792Glu
ENST00000347982.8:c.4568G>A	ENSP00000343209.4:p.Gly1523Glu
ENST00000354179.8:c.4568G>A	ENSP00000346111.4:p.Gly1523Glu
ENST00000439151.6:c.5375G>A	ENSP00000395929.2:p.Gly1792Glu
ENST00000503056.5:c.17G>A	ENSP00000424024.1:p.Gly6Glu
ENST00000504457.5:c.17G>A	ENSP00000422996.1:p.Gly6Glu
ENST00000508029.5:c.17G>A	ENSP00000425120.1:p.Gly6Glu
ENST00000515735.1:c.17G>A	ENSP00000423048.1:p.Gly6Glu
NM_022455.4:c.5375G>A , LRG_512t1:c.5375G>A	NP_071900.2:p.Gly1792Glu
NM_172349.2:c.4568G>A	NP_758859.1:p.Gly1523Glu
XM_005265959.1:c.5375G>A	XP_005266016.1:p.Gly1792Glu
XM_005265960.1:c.4568G>A	XP_005266017.1:p.Gly1523Glu
XM_005265961.1:c.4568G>A	XP_005266018.1:p.Gly1523Glu
XM_005265962.3:c.869G>A	XP_005266019.1:p.Gly290Glu
XM_011534610.1:c.5375G>A	XP_011532912.1:p.Gly1792Glu
XM_011534611.1:c.5375G>A	XP_011532913.1:p.Gly1792Glu
XM_011534612.1:c.4955G>A	XP_011532914.1:p.Gly1652Glu
XM_011534613.1:c.4319G>A	XP_011532915.1:p.Gly1440Glu
XM_011534617.1:c.1109G>A	XP_011532919.1:p.Gly370Glu
NM_001365684.1:c.4568G>A	NP_001352613.1:p.Gly1523Glu
XM_024446150.1:c.5375G>A	XP_024301918.1:p.Gly1792Glu
XM_024446151.1:c.5375G>A	XP_024301919.1:p.Gly1792Glu
XM_024446152.1:c.5375G>A	XP_024301920.1:p.Gly1792Glu
XM_024446153.1:c.5375G>A	XP_024301921.1:p.Gly1792Glu
XM_024446154.1:c.4955G>A	XP_024301922.1:p.Gly1652Glu
XM_024446155.1:c.4568G>A	XP_024301923.1:p.Gly1523Glu
XM_024446156.1:c.4568G>A	XP_024301924.1:p.Gly1523Glu
XM_024446158.1:c.4568G>A	XP_024301926.1:p.Gly1523Glu
XM_024446159.1:c.4319G>A	XP_024301927.1:p.Gly1440Glu
XM_024446162.1:c.1109G>A	XP_024301930.1:p.Gly370Glu
XM_024446163.1:c.869G>A	XP_024301931.1:p.Gly290Glu
NM_022455.5:c.5375G>A MANE Select	NP_071900.2:p.Gly1792Glu
NM_172349.3:c.4568G>A	NP_758859.1:p.Gly1523Glu