Canonical Allele Identifier: CA294963

Gene: NSD1

Linked Data

• ClinVar Variation Id: 159370
• ClinVar RCV Id: RCV003231270
• dbSNP Id: rs587784149
• COSMIC: COSM1567766 ; COSM1567767
• MyVariant Identifiers: chr5:g.176696731G>A (hg19) ; chr5:g.177269730G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177269730G>A , CM000667.2:g.177269730G>A	GRCh38
NC_000005.9:g.176696731G>A , CM000667.1:g.176696731G>A	GRCh37
NC_000005.8:g.176629337G>A	NCBI36
NG_009821.1:g.141652G>A , LRG_512:g.141652G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.4559G>A	ENSP00000423372.3:p.Arg1520Gln
ENST00000347982.9:c.4559G>A	ENSP00000343209.5:p.Arg1520Gln
ENST00000354179.9:c.4559G>A	ENSP00000346111.5:p.Arg1520Gln
ENST00000503056.6:c.74G>A	ENSP00000424024.2:p.Arg25Gln
ENST00000508029.6:c.74G>A	ENSP00000425120.2:p.Arg25Gln
ENST00000685206.1:n.5015G>A
ENST00000686993.1:c.4559G>A	ENSP00000510020.1:p.Arg1520Gln
ENST00000687095.1:n.258+2012G>A
ENST00000687453.1:c.5123G>A	ENSP00000508426.1:p.Arg1708Gln
ENST00000688613.1:n.4829G>A
ENST00000689345.1:c.4559G>A	ENSP00000509711.1:p.Arg1520Gln
ENST00000689549.1:n.5579G>A
ENST00000692024.1:n.2351G>A
ENST00000439151.7:c.5432G>A MANE Select	ENSP00000395929.2:p.Arg1811Gln
ENST00000347982.8:c.4625G>A	ENSP00000343209.4:p.Arg1542Gln
ENST00000354179.8:c.4625G>A	ENSP00000346111.4:p.Arg1542Gln
ENST00000439151.6:c.5432G>A	ENSP00000395929.2:p.Arg1811Gln
ENST00000503056.5:c.74G>A	ENSP00000424024.1:p.Arg25Gln
ENST00000508029.5:c.74G>A	ENSP00000425120.1:p.Arg25Gln
ENST00000515735.1:c.74G>A	ENSP00000423048.1:p.Arg25Gln
NM_022455.4:c.5432G>A , LRG_512t1:c.5432G>A	NP_071900.2:p.Arg1811Gln
NM_172349.2:c.4625G>A	NP_758859.1:p.Arg1542Gln
XM_005265959.1:c.5432G>A	XP_005266016.1:p.Arg1811Gln
XM_005265960.1:c.4625G>A	XP_005266017.1:p.Arg1542Gln
XM_005265961.1:c.4625G>A	XP_005266018.1:p.Arg1542Gln
XM_005265962.3:c.926G>A	XP_005266019.1:p.Arg309Gln
XM_011534610.1:c.5432G>A	XP_011532912.1:p.Arg1811Gln
XM_011534611.1:c.5432G>A	XP_011532913.1:p.Arg1811Gln
XM_011534612.1:c.5012G>A	XP_011532914.1:p.Arg1671Gln
XM_011534613.1:c.4376G>A	XP_011532915.1:p.Arg1459Gln
XM_011534617.1:c.1166G>A	XP_011532919.1:p.Arg389Gln
NM_001365684.1:c.4625G>A	NP_001352613.1:p.Arg1542Gln
XM_024446150.1:c.5432G>A	XP_024301918.1:p.Arg1811Gln
XM_024446151.1:c.5432G>A	XP_024301919.1:p.Arg1811Gln
XM_024446152.1:c.5432G>A	XP_024301920.1:p.Arg1811Gln
XM_024446153.1:c.5432G>A	XP_024301921.1:p.Arg1811Gln
XM_024446154.1:c.5012G>A	XP_024301922.1:p.Arg1671Gln
XM_024446155.1:c.4625G>A	XP_024301923.1:p.Arg1542Gln
XM_024446156.1:c.4625G>A	XP_024301924.1:p.Arg1542Gln
XM_024446158.1:c.4625G>A	XP_024301926.1:p.Arg1542Gln
XM_024446159.1:c.4376G>A	XP_024301927.1:p.Arg1459Gln
XM_024446162.1:c.1166G>A	XP_024301930.1:p.Arg389Gln
XM_024446163.1:c.926G>A	XP_024301931.1:p.Arg309Gln
NM_022455.5:c.5432G>A MANE Select	NP_071900.2:p.Arg1811Gln
NM_172349.3:c.4625G>A	NP_758859.1:p.Arg1542Gln