Canonical Allele Identifier: CA319717

Gene: NSD1

Linked Data

• ClinVar Variation Id: 211738
• ClinVar RCV Id: RCV002354542 ; RCV003231392
• dbSNP Id: rs797045825
• MyVariant Identifiers: chr5:g.176709563A>G (hg19) ; chr5:g.177282562A>G (hg38)
• PubMed: PMID:27479907 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177282562A>G , CM000667.2:g.177282562A>G	GRCh38
NC_000005.9:g.176709563A>G , CM000667.1:g.176709563A>G	GRCh37
NC_000005.8:g.176642169A>G	NCBI36
NG_009821.1:g.154484A>G , LRG_512:g.154484A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.5117A>G	ENSP00000423372.3:p.Tyr1706Cys
ENST00000347982.9:c.5117A>G	ENSP00000343209.5:p.Tyr1706Cys
ENST00000354179.9:c.5117A>G	ENSP00000346111.5:p.Tyr1706Cys
ENST00000503056.6:c.632A>G	ENSP00000424024.2:p.Tyr211Cys
ENST00000508029.6:c.632A>G	ENSP00000425120.2:p.Tyr211Cys
ENST00000685206.1:n.5573A>G
ENST00000686993.1:c.5117A>G	ENSP00000510020.1:p.Tyr1706Cys
ENST00000687453.1:c.5681A>G	ENSP00000508426.1:p.Tyr1894Cys
ENST00000688613.1:n.5387A>G
ENST00000689345.1:c.5117A>G	ENSP00000509711.1:p.Tyr1706Cys
ENST00000689549.1:n.6137A>G
ENST00000692024.1:n.4539A>G
ENST00000439151.7:c.5990A>G MANE Select	ENSP00000395929.2:p.Tyr1997Cys
ENST00000347982.8:c.5183A>G	ENSP00000343209.4:p.Tyr1728Cys
ENST00000354179.8:c.5183A>G	ENSP00000346111.4:p.Tyr1728Cys
ENST00000439151.6:c.5990A>G	ENSP00000395929.2:p.Tyr1997Cys
NM_022455.4:c.5990A>G , LRG_512t1:c.5990A>G	NP_071900.2:p.Tyr1997Cys
NM_172349.2:c.5183A>G	NP_758859.1:p.Tyr1728Cys
XM_005265959.1:c.5990A>G	XP_005266016.1:p.Tyr1997Cys
XM_005265960.1:c.5183A>G	XP_005266017.1:p.Tyr1728Cys
XM_005265961.1:c.5183A>G	XP_005266018.1:p.Tyr1728Cys
XM_005265962.3:c.1484A>G	XP_005266019.1:p.Tyr495Cys
XM_011534610.1:c.5990A>G	XP_011532912.1:p.Tyr1997Cys
XM_011534611.1:c.5990A>G	XP_011532913.1:p.Tyr1997Cys
XM_011534612.1:c.5570A>G	XP_011532914.1:p.Tyr1857Cys
XM_011534613.1:c.4934A>G	XP_011532915.1:p.Tyr1645Cys
XM_011534617.1:c.1724A>G	XP_011532919.1:p.Tyr575Cys
NM_001365684.1:c.5183A>G	NP_001352613.1:p.Tyr1728Cys
XM_024446150.1:c.5990A>G	XP_024301918.1:p.Tyr1997Cys
XM_024446151.1:c.5990A>G	XP_024301919.1:p.Tyr1997Cys
XM_024446152.1:c.5990A>G	XP_024301920.1:p.Tyr1997Cys
XM_024446153.1:c.5990A>G	XP_024301921.1:p.Tyr1997Cys
XM_024446154.1:c.5570A>G	XP_024301922.1:p.Tyr1857Cys
XM_024446155.1:c.5183A>G	XP_024301923.1:p.Tyr1728Cys
XM_024446156.1:c.5183A>G	XP_024301924.1:p.Tyr1728Cys
XM_024446158.1:c.5183A>G	XP_024301926.1:p.Tyr1728Cys
XM_024446159.1:c.4934A>G	XP_024301927.1:p.Tyr1645Cys
XM_024446162.1:c.1724A>G	XP_024301930.1:p.Tyr575Cys
XM_024446163.1:c.1484A>G	XP_024301931.1:p.Tyr495Cys
NM_022455.5:c.5990A>G MANE Select	NP_071900.2:p.Tyr1997Cys
NM_172349.3:c.5183A>G	NP_758859.1:p.Tyr1728Cys