Canonical Allele Identifier: CA362326320

Gene: NSD1

Linked Data

• ClinVar Variation Id: 2421172
• ClinVar RCV Id: RCV003232855
• dbSNP Id: rs1374514338
• MyVariant Identifiers: chr5:g.176721205C>T (hg19) ; chr5:g.177294204C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177294204C>T , CM000667.2:g.177294204C>T	GRCh38
NC_000005.9:g.176721205C>T , CM000667.1:g.176721205C>T	GRCh37
NC_000005.8:g.176653811C>T	NCBI36
NG_009821.1:g.166126C>T , LRG_512:g.166126C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.5963C>T	ENSP00000423372.3:p.Pro1988Leu
ENST00000347982.9:c.5963C>T	ENSP00000343209.5:p.Pro1988Leu
ENST00000354179.9:c.5963C>T	ENSP00000346111.5:p.Pro1988Leu
ENST00000503056.6:c.1478C>T	ENSP00000424024.2:p.Pro493Leu
ENST00000508029.6:c.1478C>T	ENSP00000425120.2:p.Pro493Leu
ENST00000685206.1:n.6419C>T
ENST00000686385.1:n.1252C>T
ENST00000686993.1:c.5963C>T	ENSP00000510020.1:p.Pro1988Leu
ENST00000687453.1:c.6527C>T	ENSP00000508426.1:p.Pro2176Leu
ENST00000688613.1:n.6233C>T
ENST00000689345.1:c.5963C>T	ENSP00000509711.1:p.Pro1988Leu
ENST00000439151.7:c.6836C>T MANE Select	ENSP00000395929.2:p.Pro2279Leu
ENST00000347982.8:c.6029C>T	ENSP00000343209.4:p.Pro2010Leu
ENST00000354179.8:c.6029C>T	ENSP00000346111.4:p.Pro2010Leu
ENST00000439151.6:c.6836C>T	ENSP00000395929.2:p.Pro2279Leu
NM_022455.4:c.6836C>T , LRG_512t1:c.6836C>T	NP_071900.2:p.Pro2279Leu
NM_172349.2:c.6029C>T	NP_758859.1:p.Pro2010Leu
XM_005265959.1:c.6836C>T	XP_005266016.1:p.Pro2279Leu
XM_005265960.1:c.6029C>T	XP_005266017.1:p.Pro2010Leu
XM_005265961.1:c.6029C>T	XP_005266018.1:p.Pro2010Leu
XM_005265962.3:c.2330C>T	XP_005266019.1:p.Pro777Leu
XM_011534610.1:c.6836C>T	XP_011532912.1:p.Pro2279Leu
XM_011534611.1:c.6836C>T	XP_011532913.1:p.Pro2279Leu
XM_011534612.1:c.6416C>T	XP_011532914.1:p.Pro2139Leu
XM_011534613.1:c.5780C>T	XP_011532915.1:p.Pro1927Leu
XM_011534617.1:c.2570C>T	XP_011532919.1:p.Pro857Leu
NM_001365684.1:c.6029C>T	NP_001352613.1:p.Pro2010Leu
XM_024446150.1:c.6836C>T	XP_024301918.1:p.Pro2279Leu
XM_024446151.1:c.6836C>T	XP_024301919.1:p.Pro2279Leu
XM_024446152.1:c.6836C>T	XP_024301920.1:p.Pro2279Leu
XM_024446153.1:c.6836C>T	XP_024301921.1:p.Pro2279Leu
XM_024446154.1:c.6416C>T	XP_024301922.1:p.Pro2139Leu
XM_024446155.1:c.6029C>T	XP_024301923.1:p.Pro2010Leu
XM_024446156.1:c.6029C>T	XP_024301924.1:p.Pro2010Leu
XM_024446158.1:c.6029C>T	XP_024301926.1:p.Pro2010Leu
XM_024446159.1:c.5780C>T	XP_024301927.1:p.Pro1927Leu
XM_024446162.1:c.2570C>T	XP_024301930.1:p.Pro857Leu
XM_024446163.1:c.2330C>T	XP_024301931.1:p.Pro777Leu
NM_022455.5:c.6836C>T MANE Select	NP_071900.2:p.Pro2279Leu
NM_172349.3:c.6029C>T	NP_758859.1:p.Pro2010Leu