Canonical Allele Identifier: CA16618178
Gene: NSD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423035
ClinVar RCV Id: RCV000482256
dbSNP Id: rs1064796184
COSMIC: COSM462001 COSM462002
MyVariant Identifiers: chr5:g.176687059C>G (hg19) chr5:g.177260058C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177260058C>G , CM000667.2:g.177260058C>G GRCh38
NC_000005.9:g.176687059C>G , CM000667.1:g.176687059C>G GRCh37
NC_000005.8:g.176619665C>G NCBI36
NG_009821.1:g.131980C>G , LRG_512:g.131980C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000508896.7:c.4163C>G ENSP00000423372.3:p.Ser1388Ter
ENST00000347982.9:c.4163C>G ENSP00000343209.5:p.Ser1388Ter
ENST00000354179.9:c.4163C>G ENSP00000346111.5:p.Ser1388Ter
ENST00000685206.1:n.4619C>G
ENST00000686993.1:c.4163C>G ENSP00000510020.1:p.Ser1388Ter
ENST00000687453.1:c.4727C>G ENSP00000508426.1:p.Ser1576Ter
ENST00000688613.1:n.4433C>G
ENST00000689345.1:c.4163C>G ENSP00000509711.1:p.Ser1388Ter
ENST00000689549.1:n.5183C>G
ENST00000439151.7:c.5036C>G MANE Select ENSP00000395929.2:p.Ser1679Ter
ENST00000347982.8:c.4229C>G ENSP00000343209.4:p.Ser1410Ter
ENST00000354179.8:c.4229C>G ENSP00000346111.4:p.Ser1410Ter
ENST00000439151.6:c.5036C>G ENSP00000395929.2:p.Ser1679Ter
NM_022455.4:c.5036C>G , LRG_512t1:c.5036C>G NP_071900.2:p.Ser1679Ter
NM_172349.2:c.4229C>G NP_758859.1:p.Ser1410Ter
XM_005265959.1:c.5036C>G XP_005266016.1:p.Ser1679Ter
XM_005265960.1:c.4229C>G XP_005266017.1:p.Ser1410Ter
XM_005265961.1:c.4229C>G XP_005266018.1:p.Ser1410Ter
XM_005265962.3:c.530C>G XP_005266019.1:p.Ser177Ter
XM_011534610.1:c.5036C>G XP_011532912.1:p.Ser1679Ter
XM_011534611.1:c.5036C>G XP_011532913.1:p.Ser1679Ter
XM_011534612.1:c.4616C>G XP_011532914.1:p.Ser1539Ter
XM_011534613.1:c.3980C>G XP_011532915.1:p.Ser1327Ter
XM_011534614.1:c.5036C>G XP_011532916.1:p.Ser1679Ter
XM_011534617.1:c.770C>G XP_011532919.1:p.Ser257Ter
NM_001365684.1:c.4229C>G NP_001352613.1:p.Ser1410Ter
XM_024446150.1:c.5036C>G XP_024301918.1:p.Ser1679Ter
XM_024446151.1:c.5036C>G XP_024301919.1:p.Ser1679Ter
XM_024446152.1:c.5036C>G XP_024301920.1:p.Ser1679Ter
XM_024446153.1:c.5036C>G XP_024301921.1:p.Ser1679Ter
XM_024446154.1:c.4616C>G XP_024301922.1:p.Ser1539Ter
XM_024446155.1:c.4229C>G XP_024301923.1:p.Ser1410Ter
XM_024446156.1:c.4229C>G XP_024301924.1:p.Ser1410Ter
XM_024446158.1:c.4229C>G XP_024301926.1:p.Ser1410Ter
XM_024446159.1:c.3980C>G XP_024301927.1:p.Ser1327Ter
XM_024446160.1:c.5036C>G XP_024301928.1:p.Ser1679Ter
XM_024446162.1:c.770C>G XP_024301930.1:p.Ser257Ter
XM_024446163.1:c.530C>G XP_024301931.1:p.Ser177Ter
NM_022455.5:c.5036C>G MANE Select NP_071900.2:p.Ser1679Ter
NM_172349.3:c.4229C>G NP_758859.1:p.Ser1410Ter
Search 100 bp 5'
Search 100 bp 3'