Canonical Allele Identifier: CA16604874
Gene: NSD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 379717
ClinVar RCV Id: RCV000427613
dbSNP Id: rs1057520710

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177267597G>C , CM000667.2:g.177267597G>C GRCh38
NC_000005.9:g.176694598G>C , CM000667.1:g.176694598G>C GRCh37
NC_000005.8:g.176627204G>C NCBI36
NG_009821.1:g.139519G>C , LRG_512:g.139519G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000508896.7:c.4309G>C ENSP00000423372.3:p.Ala1437Pro
ENST00000347982.9:c.4309G>C ENSP00000343209.5:p.Ala1437Pro
ENST00000354179.9:c.4309G>C ENSP00000346111.5:p.Ala1437Pro
ENST00000503056.6:c.-177G>C ENSP00000424024.2:n.-177G>C
ENST00000508029.6:c.-177G>C ENSP00000425120.2:n.-177G>C
ENST00000685206.1:n.4765G>C
ENST00000686993.1:c.4309G>C ENSP00000510020.1:p.Ala1437Pro
ENST00000687095.1:n.137G>C
ENST00000687453.1:c.4873G>C ENSP00000508426.1:p.Ala1625Pro
ENST00000688613.1:n.4579G>C
ENST00000689345.1:c.4309G>C ENSP00000509711.1:p.Ala1437Pro
ENST00000689549.1:n.5329G>C
ENST00000692024.1:n.2101G>C
ENST00000439151.7:c.5182G>C MANE Select ENSP00000395929.2:p.Ala1728Pro
ENST00000347982.8:c.4375G>C ENSP00000343209.4:p.Ala1459Pro
ENST00000354179.8:c.4375G>C ENSP00000346111.4:p.Ala1459Pro
ENST00000439151.6:c.5182G>C ENSP00000395929.2:p.Ala1728Pro
ENST00000503056.5:c.-177G>C ENSP00000424024.1:n.-177G>C
ENST00000504457.5:c.-177G>C ENSP00000422996.1:n.-177G>C
ENST00000505395.5:c.-177G>C ENSP00000424096.1:n.-177G>C
ENST00000508029.5:c.-177G>C ENSP00000425120.1:n.-177G>C
ENST00000515735.1:c.-177G>C ENSP00000423048.1:n.-177G>C
NM_022455.4:c.5182G>C , LRG_512t1:c.5182G>C NP_071900.2:p.Ala1728Pro
NM_172349.2:c.4375G>C NP_758859.1:p.Ala1459Pro
XM_005265959.1:c.5182G>C XP_005266016.1:p.Ala1728Pro
XM_005265960.1:c.4375G>C XP_005266017.1:p.Ala1459Pro
XM_005265961.1:c.4375G>C XP_005266018.1:p.Ala1459Pro
XM_005265962.3:c.676G>C XP_005266019.1:p.Ala226Pro
XM_011534610.1:c.5182G>C XP_011532912.1:p.Ala1728Pro
XM_011534611.1:c.5182G>C XP_011532913.1:p.Ala1728Pro
XM_011534612.1:c.4762G>C XP_011532914.1:p.Ala1588Pro
XM_011534613.1:c.4126G>C XP_011532915.1:p.Ala1376Pro
XM_011534617.1:c.916G>C XP_011532919.1:p.Ala306Pro
NM_001365684.1:c.4375G>C NP_001352613.1:p.Ala1459Pro
XM_024446150.1:c.5182G>C XP_024301918.1:p.Ala1728Pro
XM_024446151.1:c.5182G>C XP_024301919.1:p.Ala1728Pro
XM_024446152.1:c.5182G>C XP_024301920.1:p.Ala1728Pro
XM_024446153.1:c.5182G>C XP_024301921.1:p.Ala1728Pro
XM_024446154.1:c.4762G>C XP_024301922.1:p.Ala1588Pro
XM_024446155.1:c.4375G>C XP_024301923.1:p.Ala1459Pro
XM_024446156.1:c.4375G>C XP_024301924.1:p.Ala1459Pro
XM_024446158.1:c.4375G>C XP_024301926.1:p.Ala1459Pro
XM_024446159.1:c.4126G>C XP_024301927.1:p.Ala1376Pro
XM_024446162.1:c.916G>C XP_024301930.1:p.Ala306Pro
XM_024446163.1:c.676G>C XP_024301931.1:p.Ala226Pro
NM_022455.5:c.5182G>C MANE Select NP_071900.2:p.Ala1728Pro
NM_172349.3:c.4375G>C NP_758859.1:p.Ala1459Pro