Canonical Allele Identifier: CA294940

Gene: NSD1

Linked Data

• ClinVar Variation Id: 159361
• ClinVar RCV Id: RCV003231261
• dbSNP Id: rs587784140
• COSMIC: COSM4384086 ; COSM4384087
• MyVariant Identifiers: chr5:g.176694614G>A (hg19) ; chr5:g.177267613G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177267613G>A , CM000667.2:g.177267613G>A	GRCh38
NC_000005.9:g.176694614G>A , CM000667.1:g.176694614G>A	GRCh37
NC_000005.8:g.176627220G>A	NCBI36
NG_009821.1:g.139535G>A , LRG_512:g.139535G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.4325G>A	ENSP00000423372.3:p.Cys1442Tyr
ENST00000347982.9:c.4325G>A	ENSP00000343209.5:p.Cys1442Tyr
ENST00000354179.9:c.4325G>A	ENSP00000346111.5:p.Cys1442Tyr
ENST00000503056.6:c.-161G>A	ENSP00000424024.2:n.-161G>A
ENST00000508029.6:c.-161G>A	ENSP00000425120.2:n.-161G>A
ENST00000685206.1:n.4781G>A
ENST00000686993.1:c.4325G>A	ENSP00000510020.1:p.Cys1442Tyr
ENST00000687095.1:n.153G>A
ENST00000687453.1:c.4889G>A	ENSP00000508426.1:p.Cys1630Tyr
ENST00000688613.1:n.4595G>A
ENST00000689345.1:c.4325G>A	ENSP00000509711.1:p.Cys1442Tyr
ENST00000689549.1:n.5345G>A
ENST00000692024.1:n.2117G>A
ENST00000439151.7:c.5198G>A MANE Select	ENSP00000395929.2:p.Cys1733Tyr
ENST00000347982.8:c.4391G>A	ENSP00000343209.4:p.Cys1464Tyr
ENST00000354179.8:c.4391G>A	ENSP00000346111.4:p.Cys1464Tyr
ENST00000439151.6:c.5198G>A	ENSP00000395929.2:p.Cys1733Tyr
ENST00000503056.5:c.-161G>A	ENSP00000424024.1:n.-161G>A
ENST00000504457.5:c.-161G>A	ENSP00000422996.1:n.-161G>A
ENST00000505395.5:c.-161G>A	ENSP00000424096.1:n.-161G>A
ENST00000508029.5:c.-161G>A	ENSP00000425120.1:n.-161G>A
ENST00000515735.1:c.-161G>A	ENSP00000423048.1:n.-161G>A
NM_022455.4:c.5198G>A , LRG_512t1:c.5198G>A	NP_071900.2:p.Cys1733Tyr
NM_172349.2:c.4391G>A	NP_758859.1:p.Cys1464Tyr
XM_005265959.1:c.5198G>A	XP_005266016.1:p.Cys1733Tyr
XM_005265960.1:c.4391G>A	XP_005266017.1:p.Cys1464Tyr
XM_005265961.1:c.4391G>A	XP_005266018.1:p.Cys1464Tyr
XM_005265962.3:c.692G>A	XP_005266019.1:p.Cys231Tyr
XM_011534610.1:c.5198G>A	XP_011532912.1:p.Cys1733Tyr
XM_011534611.1:c.5198G>A	XP_011532913.1:p.Cys1733Tyr
XM_011534612.1:c.4778G>A	XP_011532914.1:p.Cys1593Tyr
XM_011534613.1:c.4142G>A	XP_011532915.1:p.Cys1381Tyr
XM_011534617.1:c.932G>A	XP_011532919.1:p.Cys311Tyr
NM_001365684.1:c.4391G>A	NP_001352613.1:p.Cys1464Tyr
XM_024446150.1:c.5198G>A	XP_024301918.1:p.Cys1733Tyr
XM_024446151.1:c.5198G>A	XP_024301919.1:p.Cys1733Tyr
XM_024446152.1:c.5198G>A	XP_024301920.1:p.Cys1733Tyr
XM_024446153.1:c.5198G>A	XP_024301921.1:p.Cys1733Tyr
XM_024446154.1:c.4778G>A	XP_024301922.1:p.Cys1593Tyr
XM_024446155.1:c.4391G>A	XP_024301923.1:p.Cys1464Tyr
XM_024446156.1:c.4391G>A	XP_024301924.1:p.Cys1464Tyr
XM_024446158.1:c.4391G>A	XP_024301926.1:p.Cys1464Tyr
XM_024446159.1:c.4142G>A	XP_024301927.1:p.Cys1381Tyr
XM_024446162.1:c.932G>A	XP_024301930.1:p.Cys311Tyr
XM_024446163.1:c.692G>A	XP_024301931.1:p.Cys231Tyr
NM_022455.5:c.5198G>A MANE Select	NP_071900.2:p.Cys1733Tyr
NM_172349.3:c.4391G>A	NP_758859.1:p.Cys1464Tyr