Canonical Allele Identifier: CA362305569

Gene: NSD1

Linked Data

• ClinVar Variation Id: 454055
• ClinVar RCV Id: RCV003231524
• dbSNP Id: rs1554201713
• MyVariant Identifiers: chr5:g.176694593C>G (hg19) ; chr5:g.177267592C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177267592C>G , CM000667.2:g.177267592C>G	GRCh38
NC_000005.9:g.176694593C>G , CM000667.1:g.176694593C>G	GRCh37
NC_000005.8:g.176627199C>G	NCBI36
NG_009821.1:g.139514C>G , LRG_512:g.139514C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.4304C>G	ENSP00000423372.3:p.Pro1435Arg
ENST00000347982.9:c.4304C>G	ENSP00000343209.5:p.Pro1435Arg
ENST00000354179.9:c.4304C>G	ENSP00000346111.5:p.Pro1435Arg
ENST00000503056.6:c.-182C>G	ENSP00000424024.2:n.-182C>G
ENST00000508029.6:c.-182C>G	ENSP00000425120.2:n.-182C>G
ENST00000685206.1:n.4760C>G
ENST00000686993.1:c.4304C>G	ENSP00000510020.1:p.Pro1435Arg
ENST00000687095.1:n.132C>G
ENST00000687453.1:c.4868C>G	ENSP00000508426.1:p.Pro1623Arg
ENST00000688613.1:n.4574C>G
ENST00000689345.1:c.4304C>G	ENSP00000509711.1:p.Pro1435Arg
ENST00000689549.1:n.5324C>G
ENST00000692024.1:n.2096C>G
ENST00000439151.7:c.5177C>G MANE Select	ENSP00000395929.2:p.Pro1726Arg
ENST00000347982.8:c.4370C>G	ENSP00000343209.4:p.Pro1457Arg
ENST00000354179.8:c.4370C>G	ENSP00000346111.4:p.Pro1457Arg
ENST00000439151.6:c.5177C>G	ENSP00000395929.2:p.Pro1726Arg
ENST00000503056.5:c.-182C>G	ENSP00000424024.1:n.-182C>G
ENST00000504457.5:c.-182C>G	ENSP00000422996.1:n.-182C>G
ENST00000505395.5:c.-182C>G	ENSP00000424096.1:n.-182C>G
ENST00000508029.5:c.-182C>G	ENSP00000425120.1:n.-182C>G
ENST00000515735.1:c.-182C>G	ENSP00000423048.1:n.-182C>G
NM_022455.4:c.5177C>G , LRG_512t1:c.5177C>G	NP_071900.2:p.Pro1726Arg
NM_172349.2:c.4370C>G	NP_758859.1:p.Pro1457Arg
XM_005265959.1:c.5177C>G	XP_005266016.1:p.Pro1726Arg
XM_005265960.1:c.4370C>G	XP_005266017.1:p.Pro1457Arg
XM_005265961.1:c.4370C>G	XP_005266018.1:p.Pro1457Arg
XM_005265962.3:c.671C>G	XP_005266019.1:p.Pro224Arg
XM_011534610.1:c.5177C>G	XP_011532912.1:p.Pro1726Arg
XM_011534611.1:c.5177C>G	XP_011532913.1:p.Pro1726Arg
XM_011534612.1:c.4757C>G	XP_011532914.1:p.Pro1586Arg
XM_011534613.1:c.4121C>G	XP_011532915.1:p.Pro1374Arg
XM_011534617.1:c.911C>G	XP_011532919.1:p.Pro304Arg
NM_001365684.1:c.4370C>G	NP_001352613.1:p.Pro1457Arg
XM_024446150.1:c.5177C>G	XP_024301918.1:p.Pro1726Arg
XM_024446151.1:c.5177C>G	XP_024301919.1:p.Pro1726Arg
XM_024446152.1:c.5177C>G	XP_024301920.1:p.Pro1726Arg
XM_024446153.1:c.5177C>G	XP_024301921.1:p.Pro1726Arg
XM_024446154.1:c.4757C>G	XP_024301922.1:p.Pro1586Arg
XM_024446155.1:c.4370C>G	XP_024301923.1:p.Pro1457Arg
XM_024446156.1:c.4370C>G	XP_024301924.1:p.Pro1457Arg
XM_024446158.1:c.4370C>G	XP_024301926.1:p.Pro1457Arg
XM_024446159.1:c.4121C>G	XP_024301927.1:p.Pro1374Arg
XM_024446162.1:c.911C>G	XP_024301930.1:p.Pro304Arg
XM_024446163.1:c.671C>G	XP_024301931.1:p.Pro224Arg
NM_022455.5:c.5177C>G MANE Select	NP_071900.2:p.Pro1726Arg
NM_172349.3:c.4370C>G	NP_758859.1:p.Pro1457Arg