Canonical Allele Identifier: CA281545

Gene: NSD1

Linked Data

• ClinVar Variation Id: 4143
• ClinVar RCV Id: RCV000487238 ; RCV003231085
• dbSNP Id: rs121908070
• MyVariant Identifiers: chr5:g.176665274C>T (hg19) ; chr5:g.177238273C>T (hg38)
• PubMed: PMID:12676901 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177238273C>T , CM000667.2:g.177238273C>T	GRCh38
NC_000005.9:g.176665274C>T , CM000667.1:g.176665274C>T	GRCh37
NC_000005.8:g.176597880C>T	NCBI36
NG_009821.1:g.110195C>T , LRG_512:g.110195C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.3085C>T	ENSP00000423372.3:p.Arg1029Ter
ENST00000347982.9:c.3085C>T	ENSP00000343209.5:p.Arg1029Ter
ENST00000354179.9:c.3085C>T	ENSP00000346111.5:p.Arg1029Ter
ENST00000510954.6:n.774C>T
ENST00000685206.1:n.3541C>T
ENST00000686993.1:c.3085C>T	ENSP00000510020.1:p.Arg1029Ter
ENST00000687453.1:c.3649C>T	ENSP00000508426.1:p.Arg1217Ter
ENST00000688613.1:n.3355C>T
ENST00000689326.1:c.3922-1483C>T	ENSP00000509594.1:n.3922-1483C>T
ENST00000689345.1:c.3085C>T	ENSP00000509711.1:p.Arg1029Ter
ENST00000689549.1:n.4105C>T
ENST00000439151.7:c.3958C>T MANE Select	ENSP00000395929.2:p.Arg1320Ter
ENST00000347982.8:c.3151C>T	ENSP00000343209.4:p.Arg1051Ter
ENST00000354179.8:c.3151C>T	ENSP00000346111.4:p.Arg1051Ter
ENST00000375350.3:c.333-1483C>T	ENSP00000364499.3:n.333-1483C>T
ENST00000439151.6:c.3958C>T	ENSP00000395929.2:p.Arg1320Ter
NM_022455.4:c.3958C>T , LRG_512t1:c.3958C>T	NP_071900.2:p.Arg1320Ter
NM_172349.2:c.3151C>T	NP_758859.1:p.Arg1051Ter
XM_005265959.1:c.3958C>T	XP_005266016.1:p.Arg1320Ter
XM_005265960.1:c.3151C>T	XP_005266017.1:p.Arg1051Ter
XM_005265961.1:c.3151C>T	XP_005266018.1:p.Arg1051Ter
XM_011534610.1:c.3958C>T	XP_011532912.1:p.Arg1320Ter
XM_011534611.1:c.3958C>T	XP_011532913.1:p.Arg1320Ter
XM_011534612.1:c.3538C>T	XP_011532914.1:p.Arg1180Ter
XM_011534613.1:c.2902C>T	XP_011532915.1:p.Arg968Ter
XM_011534614.1:c.3958C>T	XP_011532916.1:p.Arg1320Ter
XM_011534615.1:c.3958C>T	XP_011532917.1:p.Arg1320Ter
XM_011534616.1:c.3922-1483C>T	XP_011532918.1:n.3922-1483C>T
XM_011534617.1:c.-74-1483C>T	XP_011532919.1:n.-74-1483C>T
NM_001365684.1:c.3151C>T	NP_001352613.1:p.Arg1051Ter
XM_024446150.1:c.3958C>T	XP_024301918.1:p.Arg1320Ter
XM_024446151.1:c.3958C>T	XP_024301919.1:p.Arg1320Ter
XM_024446152.1:c.3958C>T	XP_024301920.1:p.Arg1320Ter
XM_024446153.1:c.3958C>T	XP_024301921.1:p.Arg1320Ter
XM_024446154.1:c.3538C>T	XP_024301922.1:p.Arg1180Ter
XM_024446155.1:c.3151C>T	XP_024301923.1:p.Arg1051Ter
XM_024446156.1:c.3151C>T	XP_024301924.1:p.Arg1051Ter
XM_024446158.1:c.3151C>T	XP_024301926.1:p.Arg1051Ter
XM_024446159.1:c.2902C>T	XP_024301927.1:p.Arg968Ter
XM_024446160.1:c.3958C>T	XP_024301928.1:p.Arg1320Ter
XM_024446161.1:c.3958C>T	XP_024301929.1:p.Arg1320Ter
XM_024446162.1:c.-74-1483C>T	XP_024301930.1:n.-74-1483C>T
NM_022455.5:c.3958C>T MANE Select	NP_071900.2:p.Arg1320Ter
NM_172349.3:c.3151C>T	NP_758859.1:p.Arg1051Ter