Canonical Allele Identifier: CA295114

Gene: NSD1

Linked Data

• ClinVar Variation Id: 159435
• ClinVar RCV Id: RCV001753525 ; RCV003231333
• dbSNP Id: rs587784213
• MyVariant Identifiers: chr5:g.176721009G>A (hg19) ; chr5:g.177294008G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177294008G>A , CM000667.2:g.177294008G>A	GRCh38
NC_000005.9:g.176721009G>A , CM000667.1:g.176721009G>A	GRCh37
NC_000005.8:g.176653615G>A	NCBI36
NG_009821.1:g.165930G>A , LRG_512:g.165930G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.5767G>A	ENSP00000423372.3:p.Glu1923Lys
ENST00000347982.9:c.5767G>A	ENSP00000343209.5:p.Glu1923Lys
ENST00000354179.9:c.5767G>A	ENSP00000346111.5:p.Glu1923Lys
ENST00000503056.6:c.1282G>A	ENSP00000424024.2:p.Glu428Lys
ENST00000508029.6:c.1282G>A	ENSP00000425120.2:p.Glu428Lys
ENST00000685206.1:n.6223G>A
ENST00000686385.1:n.1056G>A
ENST00000686993.1:c.5767G>A	ENSP00000510020.1:p.Glu1923Lys
ENST00000687453.1:c.6331G>A	ENSP00000508426.1:p.Glu2111Lys
ENST00000688613.1:n.6037G>A
ENST00000689345.1:c.5767G>A	ENSP00000509711.1:p.Glu1923Lys
ENST00000439151.7:c.6640G>A MANE Select	ENSP00000395929.2:p.Glu2214Lys
ENST00000347982.8:c.5833G>A	ENSP00000343209.4:p.Glu1945Lys
ENST00000354179.8:c.5833G>A	ENSP00000346111.4:p.Glu1945Lys
ENST00000439151.6:c.6640G>A	ENSP00000395929.2:p.Glu2214Lys
NM_022455.4:c.6640G>A , LRG_512t1:c.6640G>A	NP_071900.2:p.Glu2214Lys
NM_172349.2:c.5833G>A	NP_758859.1:p.Glu1945Lys
XM_005265959.1:c.6640G>A	XP_005266016.1:p.Glu2214Lys
XM_005265960.1:c.5833G>A	XP_005266017.1:p.Glu1945Lys
XM_005265961.1:c.5833G>A	XP_005266018.1:p.Glu1945Lys
XM_005265962.3:c.2134G>A	XP_005266019.1:p.Glu712Lys
XM_011534610.1:c.6640G>A	XP_011532912.1:p.Glu2214Lys
XM_011534611.1:c.6640G>A	XP_011532913.1:p.Glu2214Lys
XM_011534612.1:c.6220G>A	XP_011532914.1:p.Glu2074Lys
XM_011534613.1:c.5584G>A	XP_011532915.1:p.Glu1862Lys
XM_011534617.1:c.2374G>A	XP_011532919.1:p.Glu792Lys
NM_001365684.1:c.5833G>A	NP_001352613.1:p.Glu1945Lys
XM_024446150.1:c.6640G>A	XP_024301918.1:p.Glu2214Lys
XM_024446151.1:c.6640G>A	XP_024301919.1:p.Glu2214Lys
XM_024446152.1:c.6640G>A	XP_024301920.1:p.Glu2214Lys
XM_024446153.1:c.6640G>A	XP_024301921.1:p.Glu2214Lys
XM_024446154.1:c.6220G>A	XP_024301922.1:p.Glu2074Lys
XM_024446155.1:c.5833G>A	XP_024301923.1:p.Glu1945Lys
XM_024446156.1:c.5833G>A	XP_024301924.1:p.Glu1945Lys
XM_024446158.1:c.5833G>A	XP_024301926.1:p.Glu1945Lys
XM_024446159.1:c.5584G>A	XP_024301927.1:p.Glu1862Lys
XM_024446162.1:c.2374G>A	XP_024301930.1:p.Glu792Lys
XM_024446163.1:c.2134G>A	XP_024301931.1:p.Glu712Lys
NM_022455.5:c.6640G>A MANE Select	NP_071900.2:p.Glu2214Lys
NM_172349.3:c.5833G>A	NP_758859.1:p.Glu1945Lys