Canonical Allele Identifier: CA447725882
Gene: NSD1 HGNC NCBI

Linked Data

dbSNP Id: rs1755987585
MyVariant Identifiers: chr5:g.176678778T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177251777T>C , CM000667.2:g.177251777T>C GRCh38
NC_000005.9:g.176678778T>C , CM000667.1:g.176678778T>C GRCh37
NC_000005.8:g.176611384T>C NCBI36
NG_009821.1:g.123699T>C , LRG_512:g.123699T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000508896.7:c.3816T>C ENSP00000423372.3:p.Cys1272=
ENST00000347982.9:c.3816T>C ENSP00000343209.5:p.Cys1272=
ENST00000354179.9:c.3816T>C ENSP00000346111.5:p.Cys1272=
ENST00000685206.1:n.4272T>C
ENST00000686993.1:c.3816T>C ENSP00000510020.1:p.Cys1272=
ENST00000687453.1:c.4380T>C ENSP00000508426.1:p.Cys1460=
ENST00000688613.1:n.4086T>C
ENST00000689345.1:c.3816T>C ENSP00000509711.1:p.Cys1272=
ENST00000689549.1:n.4836T>C
ENST00000439151.7:c.4689T>C MANE Select ENSP00000395929.2:p.Cys1563=
ENST00000347982.8:c.3882T>C ENSP00000343209.4:p.Cys1294=
ENST00000354179.8:c.3882T>C ENSP00000346111.4:p.Cys1294=
ENST00000439151.6:c.4689T>C ENSP00000395929.2:p.Cys1563=
NM_022455.4:c.4689T>C , LRG_512t1:c.4689T>C NP_071900.2:p.Cys1563=
NM_172349.2:c.3882T>C NP_758859.1:p.Cys1294=
XM_005265959.1:c.4689T>C XP_005266016.1:p.Cys1563=
XM_005265960.1:c.3882T>C XP_005266017.1:p.Cys1294=
XM_005265961.1:c.3882T>C XP_005266018.1:p.Cys1294=
XM_005265962.3:c.183T>C XP_005266019.1:p.Cys61=
XM_011534610.1:c.4689T>C XP_011532912.1:p.Cys1563=
XM_011534611.1:c.4689T>C XP_011532913.1:p.Cys1563=
XM_011534612.1:c.4269T>C XP_011532914.1:p.Cys1423=
XM_011534613.1:c.3633T>C XP_011532915.1:p.Cys1211=
XM_011534614.1:c.4689T>C XP_011532916.1:p.Cys1563=
XM_011534617.1:c.423T>C XP_011532919.1:p.Cys141=
NM_001365684.1:c.3882T>C NP_001352613.1:p.Cys1294=
XM_024446150.1:c.4689T>C XP_024301918.1:p.Cys1563=
XM_024446151.1:c.4689T>C XP_024301919.1:p.Cys1563=
XM_024446152.1:c.4689T>C XP_024301920.1:p.Cys1563=
XM_024446153.1:c.4689T>C XP_024301921.1:p.Cys1563=
XM_024446154.1:c.4269T>C XP_024301922.1:p.Cys1423=
XM_024446155.1:c.3882T>C XP_024301923.1:p.Cys1294=
XM_024446156.1:c.3882T>C XP_024301924.1:p.Cys1294=
XM_024446158.1:c.3882T>C XP_024301926.1:p.Cys1294=
XM_024446159.1:c.3633T>C XP_024301927.1:p.Cys1211=
XM_024446160.1:c.4689T>C XP_024301928.1:p.Cys1563=
XM_024446162.1:c.423T>C XP_024301930.1:p.Cys141=
XM_024446163.1:c.183T>C XP_024301931.1:p.Cys61=
NM_022455.5:c.4689T>C MANE Select NP_071900.2:p.Cys1563=
NM_172349.3:c.3882T>C NP_758859.1:p.Cys1294=