Canonical Allele Identifier: CA362312807

Gene: NSD1

Linked Data

• ClinVar Variation Id: 2578222
• ClinVar RCV Id: RCV003325821
• MyVariant Identifiers: chr5:g.176707668T>C (hg19) ; chr5:g.177280667T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177280667T>C , CM000667.2:g.177280667T>C	GRCh38
NC_000005.9:g.176707668T>C , CM000667.1:g.176707668T>C	GRCh37
NC_000005.8:g.176640274T>C	NCBI36
NG_009821.1:g.152589T>C , LRG_512:g.152589T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.4852T>C	ENSP00000423372.3:p.Ser1618Pro
ENST00000347982.9:c.4852T>C	ENSP00000343209.5:p.Ser1618Pro
ENST00000354179.9:c.4852T>C	ENSP00000346111.5:p.Ser1618Pro
ENST00000503056.6:c.367T>C	ENSP00000424024.2:p.Ser123Pro
ENST00000508029.6:c.367T>C	ENSP00000425120.2:p.Ser123Pro
ENST00000685206.1:n.5308T>C
ENST00000686993.1:c.4852T>C	ENSP00000510020.1:p.Ser1618Pro
ENST00000687095.1:n.474T>C
ENST00000687453.1:c.5416T>C	ENSP00000508426.1:p.Ser1806Pro
ENST00000688613.1:n.5122T>C
ENST00000689345.1:c.4852T>C	ENSP00000509711.1:p.Ser1618Pro
ENST00000689549.1:n.5872T>C
ENST00000692024.1:n.2644T>C
ENST00000439151.7:c.5725T>C MANE Select	ENSP00000395929.2:p.Ser1909Pro
ENST00000347982.8:c.4918T>C	ENSP00000343209.4:p.Ser1640Pro
ENST00000354179.8:c.4918T>C	ENSP00000346111.4:p.Ser1640Pro
ENST00000439151.6:c.5725T>C	ENSP00000395929.2:p.Ser1909Pro
NM_022455.4:c.5725T>C , LRG_512t1:c.5725T>C	NP_071900.2:p.Ser1909Pro
NM_172349.2:c.4918T>C	NP_758859.1:p.Ser1640Pro
XM_005265959.1:c.5725T>C	XP_005266016.1:p.Ser1909Pro
XM_005265960.1:c.4918T>C	XP_005266017.1:p.Ser1640Pro
XM_005265961.1:c.4918T>C	XP_005266018.1:p.Ser1640Pro
XM_005265962.3:c.1219T>C	XP_005266019.1:p.Ser407Pro
XM_011534610.1:c.5725T>C	XP_011532912.1:p.Ser1909Pro
XM_011534611.1:c.5725T>C	XP_011532913.1:p.Ser1909Pro
XM_011534612.1:c.5305T>C	XP_011532914.1:p.Ser1769Pro
XM_011534613.1:c.4669T>C	XP_011532915.1:p.Ser1557Pro
XM_011534617.1:c.1459T>C	XP_011532919.1:p.Ser487Pro
NM_001365684.1:c.4918T>C	NP_001352613.1:p.Ser1640Pro
XM_024446150.1:c.5725T>C	XP_024301918.1:p.Ser1909Pro
XM_024446151.1:c.5725T>C	XP_024301919.1:p.Ser1909Pro
XM_024446152.1:c.5725T>C	XP_024301920.1:p.Ser1909Pro
XM_024446153.1:c.5725T>C	XP_024301921.1:p.Ser1909Pro
XM_024446154.1:c.5305T>C	XP_024301922.1:p.Ser1769Pro
XM_024446155.1:c.4918T>C	XP_024301923.1:p.Ser1640Pro
XM_024446156.1:c.4918T>C	XP_024301924.1:p.Ser1640Pro
XM_024446158.1:c.4918T>C	XP_024301926.1:p.Ser1640Pro
XM_024446159.1:c.4669T>C	XP_024301927.1:p.Ser1557Pro
XM_024446162.1:c.1459T>C	XP_024301930.1:p.Ser487Pro
XM_024446163.1:c.1219T>C	XP_024301931.1:p.Ser407Pro
NM_022455.5:c.5725T>C MANE Select	NP_071900.2:p.Ser1909Pro
NM_172349.3:c.4918T>C	NP_758859.1:p.Ser1640Pro