Canonical Allele Identifier: CA281548

Gene: NSD1

Linked Data

• ClinVar Variation Id: 4146
• ClinVar RCV Id: RCV001813734 ; RCV003231088
• dbSNP Id: rs121908071
• MyVariant Identifiers: chr5:g.176720974G>A (hg19) ; chr5:g.177293973G>A (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177293973G>A , CM000667.2:g.177293973G>A	GRCh38
NC_000005.9:g.176720974G>A , CM000667.1:g.176720974G>A	GRCh37
NC_000005.8:g.176653580G>A	NCBI36
NG_009821.1:g.165895G>A , LRG_512:g.165895G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.5732G>A	ENSP00000423372.3:p.Cys1911Tyr
ENST00000347982.9:c.5732G>A	ENSP00000343209.5:p.Cys1911Tyr
ENST00000354179.9:c.5732G>A	ENSP00000346111.5:p.Cys1911Tyr
ENST00000503056.6:c.1247G>A	ENSP00000424024.2:p.Cys416Tyr
ENST00000508029.6:c.1247G>A	ENSP00000425120.2:p.Cys416Tyr
ENST00000685206.1:n.6188G>A
ENST00000686385.1:n.1021G>A
ENST00000686993.1:c.5732G>A	ENSP00000510020.1:p.Cys1911Tyr
ENST00000687453.1:c.6296G>A	ENSP00000508426.1:p.Cys2099Tyr
ENST00000688613.1:n.6002G>A
ENST00000689345.1:c.5732G>A	ENSP00000509711.1:p.Cys1911Tyr
ENST00000439151.7:c.6605G>A MANE Select	ENSP00000395929.2:p.Cys2202Tyr
ENST00000347982.8:c.5798G>A	ENSP00000343209.4:p.Cys1933Tyr
ENST00000354179.8:c.5798G>A	ENSP00000346111.4:p.Cys1933Tyr
ENST00000439151.6:c.6605G>A	ENSP00000395929.2:p.Cys2202Tyr
NM_022455.4:c.6605G>A , LRG_512t1:c.6605G>A	NP_071900.2:p.Cys2202Tyr
NM_172349.2:c.5798G>A	NP_758859.1:p.Cys1933Tyr
XM_005265959.1:c.6605G>A	XP_005266016.1:p.Cys2202Tyr
XM_005265960.1:c.5798G>A	XP_005266017.1:p.Cys1933Tyr
XM_005265961.1:c.5798G>A	XP_005266018.1:p.Cys1933Tyr
XM_005265962.3:c.2099G>A	XP_005266019.1:p.Cys700Tyr
XM_011534610.1:c.6605G>A	XP_011532912.1:p.Cys2202Tyr
XM_011534611.1:c.6605G>A	XP_011532913.1:p.Cys2202Tyr
XM_011534612.1:c.6185G>A	XP_011532914.1:p.Cys2062Tyr
XM_011534613.1:c.5549G>A	XP_011532915.1:p.Cys1850Tyr
XM_011534617.1:c.2339G>A	XP_011532919.1:p.Cys780Tyr
NM_001365684.1:c.5798G>A	NP_001352613.1:p.Cys1933Tyr
XM_024446150.1:c.6605G>A	XP_024301918.1:p.Cys2202Tyr
XM_024446151.1:c.6605G>A	XP_024301919.1:p.Cys2202Tyr
XM_024446152.1:c.6605G>A	XP_024301920.1:p.Cys2202Tyr
XM_024446153.1:c.6605G>A	XP_024301921.1:p.Cys2202Tyr
XM_024446154.1:c.6185G>A	XP_024301922.1:p.Cys2062Tyr
XM_024446155.1:c.5798G>A	XP_024301923.1:p.Cys1933Tyr
XM_024446156.1:c.5798G>A	XP_024301924.1:p.Cys1933Tyr
XM_024446158.1:c.5798G>A	XP_024301926.1:p.Cys1933Tyr
XM_024446159.1:c.5549G>A	XP_024301927.1:p.Cys1850Tyr
XM_024446162.1:c.2339G>A	XP_024301930.1:p.Cys780Tyr
XM_024446163.1:c.2099G>A	XP_024301931.1:p.Cys700Tyr
NM_022455.5:c.6605G>A MANE Select	NP_071900.2:p.Cys2202Tyr
NM_172349.3:c.5798G>A	NP_758859.1:p.Cys1933Tyr