Canonical Allele Identifier: CA362311511

Gene: NSD1

Linked Data

• ClinVar Variation Id: 454044
• ClinVar RCV Id: RCV000558545
• dbSNP Id: rs1554189131
• MyVariant Identifiers: chr5:g.176637216A>T (hg19) ; chr5:g.177210215A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177210215A>T , CM000667.2:g.177210215A>T	GRCh38
NC_000005.9:g.176637216A>T , CM000667.1:g.176637216A>T	GRCh37
NC_000005.8:g.176569822A>T	NCBI36
NG_009821.1:g.82137A>T , LRG_512:g.82137A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.943A>T	ENSP00000423372.3:p.Lys315Ter
ENST00000347982.9:c.943A>T	ENSP00000343209.5:p.Lys315Ter
ENST00000354179.9:c.943A>T	ENSP00000346111.5:p.Lys315Ter
ENST00000508896.6:c.943A>T	ENSP00000423372.2:p.Lys315Ter
ENST00000510954.6:n.612+5923A>T
ENST00000638627.3:c.760A>T	ENSP00000492679.3:p.Lys254Ter
ENST00000685206.1:n.1399A>T
ENST00000686993.1:c.943A>T	ENSP00000510020.1:p.Lys315Ter
ENST00000687453.1:c.1507A>T	ENSP00000508426.1:p.Lys503Ter
ENST00000688613.1:n.1213A>T
ENST00000689326.1:c.1816A>T	ENSP00000509594.1:p.Lys606Ter
ENST00000689345.1:c.943A>T	ENSP00000509711.1:p.Lys315Ter
ENST00000689549.1:n.1963A>T
ENST00000439151.7:c.1816A>T MANE Select	ENSP00000395929.2:p.Lys606Ter
ENST00000638627.2:c.*909A>T	ENSP00000492679.2:n.*909A>T
ENST00000347982.8:c.1009A>T	ENSP00000343209.4:p.Lys337Ter
ENST00000354179.8:c.1009A>T	ENSP00000346111.4:p.Lys337Ter
ENST00000439151.6:c.1816A>T	ENSP00000395929.2:p.Lys606Ter
NM_022455.4:c.1816A>T , LRG_512t1:c.1816A>T	NP_071900.2:p.Lys606Ter
NM_172349.2:c.1009A>T	NP_758859.1:p.Lys337Ter
XM_005265959.1:c.1816A>T	XP_005266016.1:p.Lys606Ter
XM_005265960.1:c.1009A>T	XP_005266017.1:p.Lys337Ter
XM_005265961.1:c.1009A>T	XP_005266018.1:p.Lys337Ter
XM_011534610.1:c.1816A>T	XP_011532912.1:p.Lys606Ter
XM_011534611.1:c.1816A>T	XP_011532913.1:p.Lys606Ter
XM_011534612.1:c.1396A>T	XP_011532914.1:p.Lys466Ter
XM_011534613.1:c.760A>T	XP_011532915.1:p.Lys254Ter
XM_011534614.1:c.1816A>T	XP_011532916.1:p.Lys606Ter
XM_011534615.1:c.1816A>T	XP_011532917.1:p.Lys606Ter
XM_011534616.1:c.1816A>T	XP_011532918.1:p.Lys606Ter
NM_001365684.1:c.1009A>T	NP_001352613.1:p.Lys337Ter
XM_024446150.1:c.1816A>T	XP_024301918.1:p.Lys606Ter
XM_024446151.1:c.1816A>T	XP_024301919.1:p.Lys606Ter
XM_024446152.1:c.1816A>T	XP_024301920.1:p.Lys606Ter
XM_024446153.1:c.1816A>T	XP_024301921.1:p.Lys606Ter
XM_024446154.1:c.1396A>T	XP_024301922.1:p.Lys466Ter
XM_024446155.1:c.1009A>T	XP_024301923.1:p.Lys337Ter
XM_024446156.1:c.1009A>T	XP_024301924.1:p.Lys337Ter
XM_024446158.1:c.1009A>T	XP_024301926.1:p.Lys337Ter
XM_024446159.1:c.760A>T	XP_024301927.1:p.Lys254Ter
XM_024446160.1:c.1816A>T	XP_024301928.1:p.Lys606Ter
XM_024446161.1:c.1816A>T	XP_024301929.1:p.Lys606Ter
XM_024446162.1:c.-2180A>T	XP_024301930.1:n.-2180A>T
NM_022455.5:c.1816A>T MANE Select	NP_071900.2:p.Lys606Ter
NM_172349.3:c.1009A>T	NP_758859.1:p.Lys337Ter