Canonical Allele Identifier: CA16042611
Gene: NSD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372889
ClinVar RCV Id: RCV000413194
dbSNP Id: rs1057518051

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177292120A>C , CM000667.2:g.177292120A>C GRCh38
NC_000005.9:g.176719121A>C , CM000667.1:g.176719121A>C GRCh37
NC_000005.8:g.176651727A>C NCBI36
NG_009821.1:g.164042A>C , LRG_512:g.164042A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000508896.7:c.5552A>C ENSP00000423372.3:p.Tyr1851Ser
ENST00000347982.9:c.5552A>C ENSP00000343209.5:p.Tyr1851Ser
ENST00000354179.9:c.5552A>C ENSP00000346111.5:p.Tyr1851Ser
ENST00000503056.6:c.1067A>C ENSP00000424024.2:p.Tyr356Ser
ENST00000508029.6:c.1067A>C ENSP00000425120.2:p.Tyr356Ser
ENST00000685206.1:n.6008A>C
ENST00000686385.1:n.841A>C
ENST00000686993.1:c.5552A>C ENSP00000510020.1:p.Tyr1851Ser
ENST00000687453.1:c.6116A>C ENSP00000508426.1:p.Tyr2039Ser
ENST00000688613.1:n.5822A>C
ENST00000689345.1:c.5552A>C ENSP00000509711.1:p.Tyr1851Ser
ENST00000439151.7:c.6425A>C MANE Select ENSP00000395929.2:p.Tyr2142Ser
ENST00000347982.8:c.5618A>C ENSP00000343209.4:p.Tyr1873Ser
ENST00000354179.8:c.5618A>C ENSP00000346111.4:p.Tyr1873Ser
ENST00000439151.6:c.6425A>C ENSP00000395929.2:p.Tyr2142Ser
ENST00000513736.1:n.567A>C
NM_022455.4:c.6425A>C , LRG_512t1:c.6425A>C NP_071900.2:p.Tyr2142Ser
NM_172349.2:c.5618A>C NP_758859.1:p.Tyr1873Ser
XM_005265959.1:c.6425A>C XP_005266016.1:p.Tyr2142Ser
XM_005265960.1:c.5618A>C XP_005266017.1:p.Tyr1873Ser
XM_005265961.1:c.5618A>C XP_005266018.1:p.Tyr1873Ser
XM_005265962.3:c.1919A>C XP_005266019.1:p.Tyr640Ser
XM_011534610.1:c.6425A>C XP_011532912.1:p.Tyr2142Ser
XM_011534611.1:c.6425A>C XP_011532913.1:p.Tyr2142Ser
XM_011534612.1:c.6005A>C XP_011532914.1:p.Tyr2002Ser
XM_011534613.1:c.5369A>C XP_011532915.1:p.Tyr1790Ser
XM_011534617.1:c.2159A>C XP_011532919.1:p.Tyr720Ser
NM_001365684.1:c.5618A>C NP_001352613.1:p.Tyr1873Ser
XM_024446150.1:c.6425A>C XP_024301918.1:p.Tyr2142Ser
XM_024446151.1:c.6425A>C XP_024301919.1:p.Tyr2142Ser
XM_024446152.1:c.6425A>C XP_024301920.1:p.Tyr2142Ser
XM_024446153.1:c.6425A>C XP_024301921.1:p.Tyr2142Ser
XM_024446154.1:c.6005A>C XP_024301922.1:p.Tyr2002Ser
XM_024446155.1:c.5618A>C XP_024301923.1:p.Tyr1873Ser
XM_024446156.1:c.5618A>C XP_024301924.1:p.Tyr1873Ser
XM_024446158.1:c.5618A>C XP_024301926.1:p.Tyr1873Ser
XM_024446159.1:c.5369A>C XP_024301927.1:p.Tyr1790Ser
XM_024446162.1:c.2159A>C XP_024301930.1:p.Tyr720Ser
XM_024446163.1:c.1919A>C XP_024301931.1:p.Tyr640Ser
NM_022455.5:c.6425A>C MANE Select NP_071900.2:p.Tyr2142Ser
NM_172349.3:c.5618A>C NP_758859.1:p.Tyr1873Ser