Canonical Allele Identifier: CA16042514
Gene: NSD1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373004
ClinVar RCV Id: RCV000414147
dbSNP Id: rs1057518133

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177260151G>T , CM000667.2:g.177260151G>T GRCh38
NC_000005.9:g.176687152G>T , CM000667.1:g.176687152G>T GRCh37
NC_000005.8:g.176619758G>T NCBI36
NG_009821.1:g.132073G>T , LRG_512:g.132073G>T

Transcript Alleles

HGVS Amino-acid change
NM_022455.4:c.5129G>T , LRG_512t1:c.5129G>T NP_071900.2:p.Cys1710Phe
NM_172349.2:c.4322G>T VV NP_758859.1:p.Cys1441Phe
XM_005265959.1:c.5129G>T XP_005266016.1:p.Cys1710Phe
XM_005265960.1:c.4322G>T XP_005266017.1:p.Cys1441Phe
XM_005265961.1:c.4322G>T XP_005266018.1:p.Cys1441Phe
XM_005265962.3:c.623G>T XP_005266019.1:p.Cys208Phe
XM_011534610.1:c.5129G>T XP_011532912.1:p.Cys1710Phe
XM_011534611.1:c.5129G>T XP_011532913.1:p.Cys1710Phe
XM_011534612.1:c.4709G>T XP_011532914.1:p.Cys1570Phe
XM_011534613.1:c.4073G>T XP_011532915.1:p.Cys1358Phe
XM_011534614.1:c.5129G>T XP_011532916.1:p.Cys1710Phe
XM_011534617.1:c.863G>T XP_011532919.1:p.Cys288Phe
NM_001365684.1:c.4322G>T VV NP_001352613.1:p.Cys1441Phe
XM_024446150.1:c.5129G>T XP_024301918.1:p.Cys1710Phe
XM_024446151.1:c.5129G>T XP_024301919.1:p.Cys1710Phe
XM_024446152.1:c.5129G>T XP_024301920.1:p.Cys1710Phe
XM_024446153.1:c.5129G>T XP_024301921.1:p.Cys1710Phe
XM_024446154.1:c.4709G>T XP_024301922.1:p.Cys1570Phe
XM_024446155.1:c.4322G>T XP_024301923.1:p.Cys1441Phe
XM_024446156.1:c.4322G>T XP_024301924.1:p.Cys1441Phe
XM_024446158.1:c.4322G>T XP_024301926.1:p.Cys1441Phe
XM_024446159.1:c.4073G>T XP_024301927.1:p.Cys1358Phe
XM_024446160.1:c.5129G>T XP_024301928.1:p.Cys1710Phe
XM_024446162.1:c.863G>T XP_024301930.1:p.Cys288Phe
XM_024446163.1:c.623G>T XP_024301931.1:p.Cys208Phe
ENST00000347982.8:c.4322G>T ENSP00000343209.4:p.Cys1441Phe
ENST00000354179.8:c.4322G>T ENSP00000346111.4:p.Cys1441Phe
ENST00000439151.6:c.5129G>T ENSP00000395929.2:p.Cys1710Phe