Canonical Allele Identifier: CA132861307

Gene: NSD1

Linked Data

• ClinVar Variation Id: 1685987
• ClinVar RCV Id: RCV002250154
• dbSNP Id: rs914580476
• gnomAD v4: 5-177292036-C-G
• MyVariant Identifiers: chr5:g.176719037C>G (hg19) ; chr5:g.177292036C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177292036C>G , CM000667.2:g.177292036C>G	GRCh38
NC_000005.9:g.176719037C>G , CM000667.1:g.176719037C>G	GRCh37
NC_000005.8:g.176651643C>G	NCBI36
NG_009821.1:g.163958C>G , LRG_512:g.163958C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000508896.7:c.5468C>G	ENSP00000423372.3:p.Thr1823Arg
ENST00000347982.9:c.5468C>G	ENSP00000343209.5:p.Thr1823Arg
ENST00000354179.9:c.5468C>G	ENSP00000346111.5:p.Thr1823Arg
ENST00000503056.6:c.983C>G	ENSP00000424024.2:p.Thr328Arg
ENST00000508029.6:c.983C>G	ENSP00000425120.2:p.Thr328Arg
ENST00000685206.1:n.5924C>G
ENST00000686385.1:n.757C>G
ENST00000686993.1:c.5468C>G	ENSP00000510020.1:p.Thr1823Arg
ENST00000687453.1:c.6032C>G	ENSP00000508426.1:p.Thr2011Arg
ENST00000688613.1:n.5738C>G
ENST00000689345.1:c.5468C>G	ENSP00000509711.1:p.Thr1823Arg
ENST00000439151.7:c.6341C>G MANE Select	ENSP00000395929.2:p.Thr2114Arg
ENST00000347982.8:c.5534C>G	ENSP00000343209.4:p.Thr1845Arg
ENST00000354179.8:c.5534C>G	ENSP00000346111.4:p.Thr1845Arg
ENST00000439151.6:c.6341C>G	ENSP00000395929.2:p.Thr2114Arg
ENST00000513736.1:n.483C>G
NM_022455.4:c.6341C>G , LRG_512t1:c.6341C>G	NP_071900.2:p.Thr2114Arg
NM_172349.2:c.5534C>G	NP_758859.1:p.Thr1845Arg
XM_005265959.1:c.6341C>G	XP_005266016.1:p.Thr2114Arg
XM_005265960.1:c.5534C>G	XP_005266017.1:p.Thr1845Arg
XM_005265961.1:c.5534C>G	XP_005266018.1:p.Thr1845Arg
XM_005265962.3:c.1835C>G	XP_005266019.1:p.Thr612Arg
XM_011534610.1:c.6341C>G	XP_011532912.1:p.Thr2114Arg
XM_011534611.1:c.6341C>G	XP_011532913.1:p.Thr2114Arg
XM_011534612.1:c.5921C>G	XP_011532914.1:p.Thr1974Arg
XM_011534613.1:c.5285C>G	XP_011532915.1:p.Thr1762Arg
XM_011534617.1:c.2075C>G	XP_011532919.1:p.Thr692Arg
NM_001365684.1:c.5534C>G	NP_001352613.1:p.Thr1845Arg
XM_024446150.1:c.6341C>G	XP_024301918.1:p.Thr2114Arg
XM_024446151.1:c.6341C>G	XP_024301919.1:p.Thr2114Arg
XM_024446152.1:c.6341C>G	XP_024301920.1:p.Thr2114Arg
XM_024446153.1:c.6341C>G	XP_024301921.1:p.Thr2114Arg
XM_024446154.1:c.5921C>G	XP_024301922.1:p.Thr1974Arg
XM_024446155.1:c.5534C>G	XP_024301923.1:p.Thr1845Arg
XM_024446156.1:c.5534C>G	XP_024301924.1:p.Thr1845Arg
XM_024446158.1:c.5534C>G	XP_024301926.1:p.Thr1845Arg
XM_024446159.1:c.5285C>G	XP_024301927.1:p.Thr1762Arg
XM_024446162.1:c.2075C>G	XP_024301930.1:p.Thr692Arg
XM_024446163.1:c.1835C>G	XP_024301931.1:p.Thr612Arg
NM_022455.5:c.6341C>G MANE Select	NP_071900.2:p.Thr2114Arg
NM_172349.3:c.5534C>G	NP_758859.1:p.Thr1845Arg