Canonical Allele Identifier: CA3577396
Gene: NSD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 449587
dbSNP Id: rs28932180

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177211614G>A , CM000667.2:g.177211614G>A GRCh38
NC_000005.9:g.176638615G>A , CM000667.1:g.176638615G>A GRCh37
NC_000005.8:g.176571221G>A NCBI36
NG_009821.1:g.83536G>A , LRG_512:g.83536G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000508896.7:c.2342G>A ENSP00000423372.3:p.Arg781Gln
ENST00000347982.9:c.2342G>A ENSP00000343209.5:p.Arg781Gln
ENST00000354179.9:c.2342G>A ENSP00000346111.5:p.Arg781Gln
ENST00000510954.6:n.612+7322G>A
ENST00000685206.1:n.2798G>A
ENST00000686993.1:c.2342G>A ENSP00000510020.1:p.Arg781Gln
ENST00000687453.1:c.2906G>A ENSP00000508426.1:p.Arg969Gln
ENST00000688613.1:n.2612G>A
ENST00000689326.1:c.3215G>A ENSP00000509594.1:p.Arg1072Gln
ENST00000689345.1:c.2342G>A ENSP00000509711.1:p.Arg781Gln
ENST00000689549.1:n.3362G>A
ENST00000439151.7:c.3215G>A MANE Select ENSP00000395929.2:p.Arg1072Gln
ENST00000347982.8:c.2408G>A ENSP00000343209.4:p.Arg803Gln
ENST00000354179.8:c.2408G>A ENSP00000346111.4:p.Arg803Gln
ENST00000439151.6:c.3215G>A ENSP00000395929.2:p.Arg1072Gln
NM_022455.4:c.3215G>A , LRG_512t1:c.3215G>A NP_071900.2:p.Arg1072Gln
NM_172349.2:c.2408G>A NP_758859.1:p.Arg803Gln
XM_005265959.1:c.3215G>A XP_005266016.1:p.Arg1072Gln
XM_005265960.1:c.2408G>A XP_005266017.1:p.Arg803Gln
XM_005265961.1:c.2408G>A XP_005266018.1:p.Arg803Gln
XM_011534610.1:c.3215G>A XP_011532912.1:p.Arg1072Gln
XM_011534611.1:c.3215G>A XP_011532913.1:p.Arg1072Gln
XM_011534612.1:c.2795G>A XP_011532914.1:p.Arg932Gln
XM_011534613.1:c.2159G>A XP_011532915.1:p.Arg720Gln
XM_011534614.1:c.3215G>A XP_011532916.1:p.Arg1072Gln
XM_011534615.1:c.3215G>A XP_011532917.1:p.Arg1072Gln
XM_011534616.1:c.3215G>A XP_011532918.1:p.Arg1072Gln
NM_001365684.1:c.2408G>A NP_001352613.1:p.Arg803Gln
XM_024446150.1:c.3215G>A XP_024301918.1:p.Arg1072Gln
XM_024446151.1:c.3215G>A XP_024301919.1:p.Arg1072Gln
XM_024446152.1:c.3215G>A XP_024301920.1:p.Arg1072Gln
XM_024446153.1:c.3215G>A XP_024301921.1:p.Arg1072Gln
XM_024446154.1:c.2795G>A XP_024301922.1:p.Arg932Gln
XM_024446155.1:c.2408G>A XP_024301923.1:p.Arg803Gln
XM_024446156.1:c.2408G>A XP_024301924.1:p.Arg803Gln
XM_024446158.1:c.2408G>A XP_024301926.1:p.Arg803Gln
XM_024446159.1:c.2159G>A XP_024301927.1:p.Arg720Gln
XM_024446160.1:c.3215G>A XP_024301928.1:p.Arg1072Gln
XM_024446161.1:c.3215G>A XP_024301929.1:p.Arg1072Gln
XM_024446162.1:c.-781G>A XP_024301930.1:n.-781G>A
NM_022455.5:c.3215G>A MANE Select NP_071900.2:p.Arg1072Gln
NM_172349.3:c.2408G>A NP_758859.1:p.Arg803Gln