Canonical Allele Identifier: CA16618182
Gene: NSD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423903
ClinVar RCV Id: RCV000482130
dbSNP Id: rs1064796690

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177280757C>T , CM000667.2:g.177280757C>T GRCh38
NC_000005.9:g.176707758C>T , CM000667.1:g.176707758C>T GRCh37
NC_000005.8:g.176640364C>T NCBI36
NG_009821.1:g.152679C>T , LRG_512:g.152679C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000508896.7:c.4942C>T ENSP00000423372.3:p.Arg1648Cys
ENST00000347982.9:c.4942C>T ENSP00000343209.5:p.Arg1648Cys
ENST00000354179.9:c.4942C>T ENSP00000346111.5:p.Arg1648Cys
ENST00000503056.6:c.457C>T ENSP00000424024.2:p.Arg153Cys
ENST00000508029.6:c.457C>T ENSP00000425120.2:p.Arg153Cys
ENST00000685206.1:n.5398C>T
ENST00000686993.1:c.4942C>T ENSP00000510020.1:p.Arg1648Cys
ENST00000687453.1:c.5506C>T ENSP00000508426.1:p.Arg1836Cys
ENST00000688613.1:n.5212C>T
ENST00000689345.1:c.4942C>T ENSP00000509711.1:p.Arg1648Cys
ENST00000689549.1:n.5962C>T
ENST00000692024.1:n.2734C>T
ENST00000439151.7:c.5815C>T MANE Select ENSP00000395929.2:p.Arg1939Cys
ENST00000347982.8:c.5008C>T ENSP00000343209.4:p.Arg1670Cys
ENST00000354179.8:c.5008C>T ENSP00000346111.4:p.Arg1670Cys
ENST00000439151.6:c.5815C>T ENSP00000395929.2:p.Arg1939Cys
NM_022455.4:c.5815C>T , LRG_512t1:c.5815C>T NP_071900.2:p.Arg1939Cys
NM_172349.2:c.5008C>T NP_758859.1:p.Arg1670Cys
XM_005265959.1:c.5815C>T XP_005266016.1:p.Arg1939Cys
XM_005265960.1:c.5008C>T XP_005266017.1:p.Arg1670Cys
XM_005265961.1:c.5008C>T XP_005266018.1:p.Arg1670Cys
XM_005265962.3:c.1309C>T XP_005266019.1:p.Arg437Cys
XM_011534610.1:c.5815C>T XP_011532912.1:p.Arg1939Cys
XM_011534611.1:c.5815C>T XP_011532913.1:p.Arg1939Cys
XM_011534612.1:c.5395C>T XP_011532914.1:p.Arg1799Cys
XM_011534613.1:c.4759C>T XP_011532915.1:p.Arg1587Cys
XM_011534617.1:c.1549C>T XP_011532919.1:p.Arg517Cys
NM_001365684.1:c.5008C>T NP_001352613.1:p.Arg1670Cys
XM_024446150.1:c.5815C>T XP_024301918.1:p.Arg1939Cys
XM_024446151.1:c.5815C>T XP_024301919.1:p.Arg1939Cys
XM_024446152.1:c.5815C>T XP_024301920.1:p.Arg1939Cys
XM_024446153.1:c.5815C>T XP_024301921.1:p.Arg1939Cys
XM_024446154.1:c.5395C>T XP_024301922.1:p.Arg1799Cys
XM_024446155.1:c.5008C>T XP_024301923.1:p.Arg1670Cys
XM_024446156.1:c.5008C>T XP_024301924.1:p.Arg1670Cys
XM_024446158.1:c.5008C>T XP_024301926.1:p.Arg1670Cys
XM_024446159.1:c.4759C>T XP_024301927.1:p.Arg1587Cys
XM_024446162.1:c.1549C>T XP_024301930.1:p.Arg517Cys
XM_024446163.1:c.1309C>T XP_024301931.1:p.Arg437Cys
NM_022455.5:c.5815C>T MANE Select NP_071900.2:p.Arg1939Cys
NM_172349.3:c.5008C>T NP_758859.1:p.Arg1670Cys