Canonical Allele Identifier: CA362326399

Gene: NSD1

Linked Data

• ClinVar Variation Id: 2637419
• ClinVar RCV Id: RCV003404717
• dbSNP Id: rs539453877
• gnomAD v3: 5-177294213-C-T
• gnomAD v4: 5-177294213-C-T
• MyVariant Identifiers: chr5:g.176721214C>T (hg19) ; chr5:g.177294213C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177294213C>T , CM000667.2:g.177294213C>T	GRCh38
NC_000005.9:g.176721214C>T , CM000667.1:g.176721214C>T	GRCh37
NC_000005.8:g.176653820C>T	NCBI36
NG_009821.1:g.166135C>T , LRG_512:g.166135C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.5972C>T	ENSP00000423372.3:p.Pro1991Leu
ENST00000347982.9:c.5972C>T	ENSP00000343209.5:p.Pro1991Leu
ENST00000354179.9:c.5972C>T	ENSP00000346111.5:p.Pro1991Leu
ENST00000503056.6:c.1487C>T	ENSP00000424024.2:p.Pro496Leu
ENST00000508029.6:c.1487C>T	ENSP00000425120.2:p.Pro496Leu
ENST00000685206.1:n.6428C>T
ENST00000686385.1:n.1261C>T
ENST00000686993.1:c.5972C>T	ENSP00000510020.1:p.Pro1991Leu
ENST00000687453.1:c.6536C>T	ENSP00000508426.1:p.Pro2179Leu
ENST00000688613.1:n.6242C>T
ENST00000689345.1:c.5972C>T	ENSP00000509711.1:p.Pro1991Leu
ENST00000439151.7:c.6845C>T MANE Select	ENSP00000395929.2:p.Pro2282Leu
ENST00000347982.8:c.6038C>T	ENSP00000343209.4:p.Pro2013Leu
ENST00000354179.8:c.6038C>T	ENSP00000346111.4:p.Pro2013Leu
ENST00000439151.6:c.6845C>T	ENSP00000395929.2:p.Pro2282Leu
NM_022455.4:c.6845C>T , LRG_512t1:c.6845C>T	NP_071900.2:p.Pro2282Leu
NM_172349.2:c.6038C>T	NP_758859.1:p.Pro2013Leu
XM_005265959.1:c.6845C>T	XP_005266016.1:p.Pro2282Leu
XM_005265960.1:c.6038C>T	XP_005266017.1:p.Pro2013Leu
XM_005265961.1:c.6038C>T	XP_005266018.1:p.Pro2013Leu
XM_005265962.3:c.2339C>T	XP_005266019.1:p.Pro780Leu
XM_011534610.1:c.6845C>T	XP_011532912.1:p.Pro2282Leu
XM_011534611.1:c.6845C>T	XP_011532913.1:p.Pro2282Leu
XM_011534612.1:c.6425C>T	XP_011532914.1:p.Pro2142Leu
XM_011534613.1:c.5789C>T	XP_011532915.1:p.Pro1930Leu
XM_011534617.1:c.2579C>T	XP_011532919.1:p.Pro860Leu
NM_001365684.1:c.6038C>T	NP_001352613.1:p.Pro2013Leu
XM_024446150.1:c.6845C>T	XP_024301918.1:p.Pro2282Leu
XM_024446151.1:c.6845C>T	XP_024301919.1:p.Pro2282Leu
XM_024446152.1:c.6845C>T	XP_024301920.1:p.Pro2282Leu
XM_024446153.1:c.6845C>T	XP_024301921.1:p.Pro2282Leu
XM_024446154.1:c.6425C>T	XP_024301922.1:p.Pro2142Leu
XM_024446155.1:c.6038C>T	XP_024301923.1:p.Pro2013Leu
XM_024446156.1:c.6038C>T	XP_024301924.1:p.Pro2013Leu
XM_024446158.1:c.6038C>T	XP_024301926.1:p.Pro2013Leu
XM_024446159.1:c.5789C>T	XP_024301927.1:p.Pro1930Leu
XM_024446162.1:c.2579C>T	XP_024301930.1:p.Pro860Leu
XM_024446163.1:c.2339C>T	XP_024301931.1:p.Pro780Leu
NM_022455.5:c.6845C>T MANE Select	NP_071900.2:p.Pro2282Leu
NM_172349.3:c.6038C>T	NP_758859.1:p.Pro2013Leu