Canonical Allele Identifier: CA281542

Gene: NSD1

Linked Data

• ClinVar Variation Id: 4140
• ClinVar RCV Id: RCV003231082
• dbSNP Id: rs121908069
• MyVariant Identifiers: chr5:g.176720917G>C (hg19) ; chr5:g.177293916G>C (hg38)
• PubMed: PMID:12464997 ; PMID:15942875

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177293916G>C , CM000667.2:g.177293916G>C	GRCh38
NC_000005.9:g.176720917G>C , CM000667.1:g.176720917G>C	GRCh37
NC_000005.8:g.176653523G>C	NCBI36
NG_009821.1:g.165838G>C , LRG_512:g.165838G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.5675G>C	ENSP00000423372.3:p.Cys1892Ser
ENST00000347982.9:c.5675G>C	ENSP00000343209.5:p.Cys1892Ser
ENST00000354179.9:c.5675G>C	ENSP00000346111.5:p.Cys1892Ser
ENST00000503056.6:c.1190G>C	ENSP00000424024.2:p.Cys397Ser
ENST00000508029.6:c.1190G>C	ENSP00000425120.2:p.Cys397Ser
ENST00000685206.1:n.6131G>C
ENST00000686385.1:n.964G>C
ENST00000686993.1:c.5675G>C	ENSP00000510020.1:p.Cys1892Ser
ENST00000687453.1:c.6239G>C	ENSP00000508426.1:p.Cys2080Ser
ENST00000688613.1:n.5945G>C
ENST00000689345.1:c.5675G>C	ENSP00000509711.1:p.Cys1892Ser
ENST00000439151.7:c.6548G>C MANE Select	ENSP00000395929.2:p.Cys2183Ser
ENST00000347982.8:c.5741G>C	ENSP00000343209.4:p.Cys1914Ser
ENST00000354179.8:c.5741G>C	ENSP00000346111.4:p.Cys1914Ser
ENST00000439151.6:c.6548G>C	ENSP00000395929.2:p.Cys2183Ser
NM_022455.4:c.6548G>C , LRG_512t1:c.6548G>C	NP_071900.2:p.Cys2183Ser
NM_172349.2:c.5741G>C	NP_758859.1:p.Cys1914Ser
XM_005265959.1:c.6548G>C	XP_005266016.1:p.Cys2183Ser
XM_005265960.1:c.5741G>C	XP_005266017.1:p.Cys1914Ser
XM_005265961.1:c.5741G>C	XP_005266018.1:p.Cys1914Ser
XM_005265962.3:c.2042G>C	XP_005266019.1:p.Cys681Ser
XM_011534610.1:c.6548G>C	XP_011532912.1:p.Cys2183Ser
XM_011534611.1:c.6548G>C	XP_011532913.1:p.Cys2183Ser
XM_011534612.1:c.6128G>C	XP_011532914.1:p.Cys2043Ser
XM_011534613.1:c.5492G>C	XP_011532915.1:p.Cys1831Ser
XM_011534617.1:c.2282G>C	XP_011532919.1:p.Cys761Ser
NM_001365684.1:c.5741G>C	NP_001352613.1:p.Cys1914Ser
XM_024446150.1:c.6548G>C	XP_024301918.1:p.Cys2183Ser
XM_024446151.1:c.6548G>C	XP_024301919.1:p.Cys2183Ser
XM_024446152.1:c.6548G>C	XP_024301920.1:p.Cys2183Ser
XM_024446153.1:c.6548G>C	XP_024301921.1:p.Cys2183Ser
XM_024446154.1:c.6128G>C	XP_024301922.1:p.Cys2043Ser
XM_024446155.1:c.5741G>C	XP_024301923.1:p.Cys1914Ser
XM_024446156.1:c.5741G>C	XP_024301924.1:p.Cys1914Ser
XM_024446158.1:c.5741G>C	XP_024301926.1:p.Cys1914Ser
XM_024446159.1:c.5492G>C	XP_024301927.1:p.Cys1831Ser
XM_024446162.1:c.2282G>C	XP_024301930.1:p.Cys761Ser
XM_024446163.1:c.2042G>C	XP_024301931.1:p.Cys681Ser
NM_022455.5:c.6548G>C MANE Select	NP_071900.2:p.Cys2183Ser
NM_172349.3:c.5741G>C	NP_758859.1:p.Cys1914Ser