Canonical Allele Identifier: CA294790

Gene: NSD1

Linked Data

• ClinVar Variation Id: 159263
• ClinVar RCV Id: RCV003231167
• dbSNP Id: rs587784071
• MyVariant Identifiers: chr5:g.176636662G>A (hg19) ; chr5:g.177209661G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177209661G>A , CM000667.2:g.177209661G>A	GRCh38
NC_000005.9:g.176636662G>A , CM000667.1:g.176636662G>A	GRCh37
NC_000005.8:g.176569268G>A	NCBI36
NG_009821.1:g.81583G>A , LRG_512:g.81583G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.389G>A	ENSP00000423372.3:p.Trp130Ter
ENST00000347982.9:c.389G>A	ENSP00000343209.5:p.Trp130Ter
ENST00000354179.9:c.389G>A	ENSP00000346111.5:p.Trp130Ter
ENST00000508896.6:c.389G>A	ENSP00000423372.2:p.Trp130Ter
ENST00000510954.6:n.612+5369G>A
ENST00000638627.3:c.206G>A	ENSP00000492679.3:p.Trp69Ter
ENST00000644863.2:c.206G>A	ENSP00000496157.2:p.Trp69Ter
ENST00000685206.1:n.845G>A
ENST00000686993.1:c.389G>A	ENSP00000510020.1:p.Trp130Ter
ENST00000687453.1:c.953G>A	ENSP00000508426.1:p.Trp318Ter
ENST00000688613.1:n.659G>A
ENST00000689326.1:c.1262G>A	ENSP00000509594.1:p.Trp421Ter
ENST00000689345.1:c.389G>A	ENSP00000509711.1:p.Trp130Ter
ENST00000689549.1:n.1409G>A
ENST00000439151.7:c.1262G>A MANE Select	ENSP00000395929.2:p.Trp421Ter
ENST00000638627.2:c.*355G>A	ENSP00000492679.2:n.*355G>A
ENST00000644863.1:c.*571G>A	ENSP00000496157.1:n.*571G>A
ENST00000347982.8:c.455G>A	ENSP00000343209.4:p.Trp152Ter
ENST00000354179.8:c.455G>A	ENSP00000346111.4:p.Trp152Ter
ENST00000439151.6:c.1262G>A	ENSP00000395929.2:p.Trp421Ter
ENST00000508896.5:c.455G>A	ENSP00000423372.1:p.Trp152Ter
NM_022455.4:c.1262G>A , LRG_512t1:c.1262G>A	NP_071900.2:p.Trp421Ter
NM_172349.2:c.455G>A	NP_758859.1:p.Trp152Ter
XM_005265959.1:c.1262G>A	XP_005266016.1:p.Trp421Ter
XM_005265960.1:c.455G>A	XP_005266017.1:p.Trp152Ter
XM_005265961.1:c.455G>A	XP_005266018.1:p.Trp152Ter
XM_011534610.1:c.1262G>A	XP_011532912.1:p.Trp421Ter
XM_011534611.1:c.1262G>A	XP_011532913.1:p.Trp421Ter
XM_011534612.1:c.842G>A	XP_011532914.1:p.Trp281Ter
XM_011534613.1:c.206G>A	XP_011532915.1:p.Trp69Ter
XM_011534614.1:c.1262G>A	XP_011532916.1:p.Trp421Ter
XM_011534615.1:c.1262G>A	XP_011532917.1:p.Trp421Ter
XM_011534616.1:c.1262G>A	XP_011532918.1:p.Trp421Ter
NM_001365684.1:c.455G>A	NP_001352613.1:p.Trp152Ter
XM_024446150.1:c.1262G>A	XP_024301918.1:p.Trp421Ter
XM_024446151.1:c.1262G>A	XP_024301919.1:p.Trp421Ter
XM_024446152.1:c.1262G>A	XP_024301920.1:p.Trp421Ter
XM_024446153.1:c.1262G>A	XP_024301921.1:p.Trp421Ter
XM_024446154.1:c.842G>A	XP_024301922.1:p.Trp281Ter
XM_024446155.1:c.455G>A	XP_024301923.1:p.Trp152Ter
XM_024446156.1:c.455G>A	XP_024301924.1:p.Trp152Ter
XM_024446158.1:c.455G>A	XP_024301926.1:p.Trp152Ter
XM_024446159.1:c.206G>A	XP_024301927.1:p.Trp69Ter
XM_024446160.1:c.1262G>A	XP_024301928.1:p.Trp421Ter
XM_024446161.1:c.1262G>A	XP_024301929.1:p.Trp421Ter
XM_024446162.1:c.-2734G>A	XP_024301930.1:n.-2734G>A
NM_022455.5:c.1262G>A MANE Select	NP_071900.2:p.Trp421Ter
NM_172349.3:c.455G>A	NP_758859.1:p.Trp152Ter