Canonical Allele Identifier: CA362321752

Gene: NSD1

Linked Data

• dbSNP Id: rs1403081774
• gnomAD v3: 5-177211449-C-T
• gnomAD v4: 5-177211449-C-T
• MyVariant Identifiers: chr5:g.176638450C>T (hg19) ; chr5:g.177211449C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177211449C>T , CM000667.2:g.177211449C>T	GRCh38
NC_000005.9:g.176638450C>T , CM000667.1:g.176638450C>T	GRCh37
NC_000005.8:g.176571056C>T	NCBI36
NG_009821.1:g.83371C>T , LRG_512:g.83371C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.2177C>T	ENSP00000423372.3:p.Thr726Ile
ENST00000347982.9:c.2177C>T	ENSP00000343209.5:p.Thr726Ile
ENST00000354179.9:c.2177C>T	ENSP00000346111.5:p.Thr726Ile
ENST00000510954.6:n.612+7157C>T
ENST00000685206.1:n.2633C>T
ENST00000686993.1:c.2177C>T	ENSP00000510020.1:p.Thr726Ile
ENST00000687453.1:c.2741C>T	ENSP00000508426.1:p.Thr914Ile
ENST00000688613.1:n.2447C>T
ENST00000689326.1:c.3050C>T	ENSP00000509594.1:p.Thr1017Ile
ENST00000689345.1:c.2177C>T	ENSP00000509711.1:p.Thr726Ile
ENST00000689549.1:n.3197C>T
ENST00000439151.7:c.3050C>T MANE Select	ENSP00000395929.2:p.Thr1017Ile
ENST00000347982.8:c.2243C>T	ENSP00000343209.4:p.Thr748Ile
ENST00000354179.8:c.2243C>T	ENSP00000346111.4:p.Thr748Ile
ENST00000439151.6:c.3050C>T	ENSP00000395929.2:p.Thr1017Ile
NM_022455.4:c.3050C>T , LRG_512t1:c.3050C>T	NP_071900.2:p.Thr1017Ile
NM_172349.2:c.2243C>T	NP_758859.1:p.Thr748Ile
XM_005265959.1:c.3050C>T	XP_005266016.1:p.Thr1017Ile
XM_005265960.1:c.2243C>T	XP_005266017.1:p.Thr748Ile
XM_005265961.1:c.2243C>T	XP_005266018.1:p.Thr748Ile
XM_011534610.1:c.3050C>T	XP_011532912.1:p.Thr1017Ile
XM_011534611.1:c.3050C>T	XP_011532913.1:p.Thr1017Ile
XM_011534612.1:c.2630C>T	XP_011532914.1:p.Thr877Ile
XM_011534613.1:c.1994C>T	XP_011532915.1:p.Thr665Ile
XM_011534614.1:c.3050C>T	XP_011532916.1:p.Thr1017Ile
XM_011534615.1:c.3050C>T	XP_011532917.1:p.Thr1017Ile
XM_011534616.1:c.3050C>T	XP_011532918.1:p.Thr1017Ile
NM_001365684.1:c.2243C>T	NP_001352613.1:p.Thr748Ile
XM_024446150.1:c.3050C>T	XP_024301918.1:p.Thr1017Ile
XM_024446151.1:c.3050C>T	XP_024301919.1:p.Thr1017Ile
XM_024446152.1:c.3050C>T	XP_024301920.1:p.Thr1017Ile
XM_024446153.1:c.3050C>T	XP_024301921.1:p.Thr1017Ile
XM_024446154.1:c.2630C>T	XP_024301922.1:p.Thr877Ile
XM_024446155.1:c.2243C>T	XP_024301923.1:p.Thr748Ile
XM_024446156.1:c.2243C>T	XP_024301924.1:p.Thr748Ile
XM_024446158.1:c.2243C>T	XP_024301926.1:p.Thr748Ile
XM_024446159.1:c.1994C>T	XP_024301927.1:p.Thr665Ile
XM_024446160.1:c.3050C>T	XP_024301928.1:p.Thr1017Ile
XM_024446161.1:c.3050C>T	XP_024301929.1:p.Thr1017Ile
XM_024446162.1:c.-946C>T	XP_024301930.1:n.-946C>T
NM_022455.5:c.3050C>T MANE Select	NP_071900.2:p.Thr1017Ile
NM_172349.3:c.2243C>T	NP_758859.1:p.Thr748Ile