Canonical Allele Identifier: CA362307199

Gene: NSD1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177269808G>A , CM000667.2:g.177269808G>A	GRCh38
NC_000005.9:g.176696809G>A , CM000667.1:g.176696809G>A	GRCh37
NC_000005.8:g.176629415G>A	NCBI36
NG_009821.1:g.141730G>A , LRG_512:g.141730G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022455.5:c.5509+1G>A MANE Select	NP_071900.2:n.5509+1G>A
ENST00000439151.7:c.5509+1G>A MANE Select	ENSP00000395929.2:n.5509+1G>A
NM_001365684.1:c.4702+1G>A	NP_001352613.1:n.4702+1G>A
NM_022455.4:c.5509+1G>A , LRG_512t1:c.5509+1G>A	NP_071900.2:n.5509+1G>A
NM_172349.2:c.4702+1G>A	NP_758859.1:n.4702+1G>A
NM_172349.3:c.4702+1G>A	NP_758859.1:n.4702+1G>A
ENST00000347982.8:c.4702+1G>A	ENSP00000343209.4:n.4702+1G>A
ENST00000347982.9:c.4636+1G>A	ENSP00000343209.5:n.4636+1G>A
ENST00000354179.8:c.4702+1G>A	ENSP00000346111.4:n.4702+1G>A
ENST00000354179.9:c.4636+1G>A	ENSP00000346111.5:n.4636+1G>A
ENST00000439151.6:c.5509+1G>A	ENSP00000395929.2:n.5509+1G>A
ENST00000503056.5:c.151+1G>A	ENSP00000424024.1:n.151+1G>A
ENST00000503056.6:c.151+1G>A	ENSP00000424024.2:n.151+1G>A
ENST00000508029.6:c.151+1G>A	ENSP00000425120.2:n.151+1G>A
ENST00000508896.7:c.4636+1G>A	ENSP00000423372.3:n.4636+1G>A
ENST00000515735.1:c.151+1G>A	ENSP00000423048.1:n.151+1G>A
ENST00000685206.1:n.5092+1G>A
ENST00000686993.1:c.4636+1G>A	ENSP00000510020.1:n.4636+1G>A
ENST00000687095.1:n.258+2090G>A
ENST00000687453.1:c.5200+1G>A	ENSP00000508426.1:n.5200+1G>A
ENST00000688613.1:n.4906+1G>A
ENST00000689345.1:c.4636+1G>A	ENSP00000509711.1:n.4636+1G>A
ENST00000689549.1:n.5656+1G>A
ENST00000692024.1:n.2428+1G>A
XM_005265959.1:c.5509+1G>A	XP_005266016.1:n.5509+1G>A
XM_005265960.1:c.4702+1G>A	XP_005266017.1:n.4702+1G>A
XM_005265961.1:c.4702+1G>A	XP_005266018.1:n.4702+1G>A
XM_005265962.3:c.1003+1G>A	XP_005266019.1:n.1003+1G>A
XM_011534610.1:c.5509+1G>A	XP_011532912.1:n.5509+1G>A
XM_011534611.1:c.5509+1G>A	XP_011532913.1:n.5509+1G>A
XM_011534612.1:c.5089+1G>A	XP_011532914.1:n.5089+1G>A
XM_011534613.1:c.4453+1G>A	XP_011532915.1:n.4453+1G>A
XM_011534617.1:c.1243+1G>A	XP_011532919.1:n.1243+1G>A
XM_024446150.1:c.5509+1G>A	XP_024301918.1:n.5509+1G>A
XM_024446151.1:c.5509+1G>A	XP_024301919.1:n.5509+1G>A
XM_024446152.1:c.5509+1G>A	XP_024301920.1:n.5509+1G>A
XM_024446153.1:c.5509+1G>A	XP_024301921.1:n.5509+1G>A
XM_024446154.1:c.5089+1G>A	XP_024301922.1:n.5089+1G>A
XM_024446155.1:c.4702+1G>A	XP_024301923.1:n.4702+1G>A
XM_024446156.1:c.4702+1G>A	XP_024301924.1:n.4702+1G>A
XM_024446158.1:c.4702+1G>A	XP_024301926.1:n.4702+1G>A
XM_024446159.1:c.4453+1G>A	XP_024301927.1:n.4453+1G>A
XM_024446162.1:c.1243+1G>A	XP_024301930.1:n.1243+1G>A
XM_024446163.1:c.1003+1G>A	XP_024301931.1:n.1003+1G>A