Canonical Allele Identifier: CA3577730

Gene: NSD1

Linked Data

• ClinVar Variation Id: 1302749
• ClinVar RCV Id: RCV001762816 ; RCV002334656 ; RCV003232397 ; RCV003910992
• dbSNP Id: rs148839758
• ExAC: 5:176684135 A / G
• gnomAD v2: 5-176684135-A-G
• gnomAD v3: 5-177257134-A-G
• gnomAD v4: 5-177257134-A-G
• MyVariant Identifiers: chr5:g.176684135A>G (hg19) ; chr5:g.177257134A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177257134A>G , CM000667.2:g.177257134A>G	GRCh38
NC_000005.9:g.176684135A>G , CM000667.1:g.176684135A>G	GRCh37
NC_000005.8:g.176616741A>G	NCBI36
NG_009821.1:g.129056A>G , LRG_512:g.129056A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.4076A>G	ENSP00000423372.3:p.Asn1359Ser
ENST00000347982.9:c.4076A>G	ENSP00000343209.5:p.Asn1359Ser
ENST00000354179.9:c.4076A>G	ENSP00000346111.5:p.Asn1359Ser
ENST00000685206.1:n.4532A>G
ENST00000686993.1:c.4076A>G	ENSP00000510020.1:p.Asn1359Ser
ENST00000687453.1:c.4640A>G	ENSP00000508426.1:p.Asn1547Ser
ENST00000688613.1:n.4346A>G
ENST00000689345.1:c.4076A>G	ENSP00000509711.1:p.Asn1359Ser
ENST00000689549.1:n.5096A>G
ENST00000439151.7:c.4949A>G MANE Select	ENSP00000395929.2:p.Asn1650Ser
ENST00000347982.8:c.4142A>G	ENSP00000343209.4:p.Asn1381Ser
ENST00000354179.8:c.4142A>G	ENSP00000346111.4:p.Asn1381Ser
ENST00000439151.6:c.4949A>G	ENSP00000395929.2:p.Asn1650Ser
NM_022455.4:c.4949A>G , LRG_512t1:c.4949A>G	NP_071900.2:p.Asn1650Ser
NM_172349.2:c.4142A>G	NP_758859.1:p.Asn1381Ser
XM_005265959.1:c.4949A>G	XP_005266016.1:p.Asn1650Ser
XM_005265960.1:c.4142A>G	XP_005266017.1:p.Asn1381Ser
XM_005265961.1:c.4142A>G	XP_005266018.1:p.Asn1381Ser
XM_005265962.3:c.443A>G	XP_005266019.1:p.Asn148Ser
XM_011534610.1:c.4949A>G	XP_011532912.1:p.Asn1650Ser
XM_011534611.1:c.4949A>G	XP_011532913.1:p.Asn1650Ser
XM_011534612.1:c.4529A>G	XP_011532914.1:p.Asn1510Ser
XM_011534613.1:c.3893A>G	XP_011532915.1:p.Asn1298Ser
XM_011534614.1:c.4949A>G	XP_011532916.1:p.Asn1650Ser
XM_011534617.1:c.683A>G	XP_011532919.1:p.Asn228Ser
NM_001365684.1:c.4142A>G	NP_001352613.1:p.Asn1381Ser
XM_024446150.1:c.4949A>G	XP_024301918.1:p.Asn1650Ser
XM_024446151.1:c.4949A>G	XP_024301919.1:p.Asn1650Ser
XM_024446152.1:c.4949A>G	XP_024301920.1:p.Asn1650Ser
XM_024446153.1:c.4949A>G	XP_024301921.1:p.Asn1650Ser
XM_024446154.1:c.4529A>G	XP_024301922.1:p.Asn1510Ser
XM_024446155.1:c.4142A>G	XP_024301923.1:p.Asn1381Ser
XM_024446156.1:c.4142A>G	XP_024301924.1:p.Asn1381Ser
XM_024446158.1:c.4142A>G	XP_024301926.1:p.Asn1381Ser
XM_024446159.1:c.3893A>G	XP_024301927.1:p.Asn1298Ser
XM_024446160.1:c.4949A>G	XP_024301928.1:p.Asn1650Ser
XM_024446162.1:c.683A>G	XP_024301930.1:p.Asn228Ser
XM_024446163.1:c.443A>G	XP_024301931.1:p.Asn148Ser
NM_022455.5:c.4949A>G MANE Select	NP_071900.2:p.Asn1650Ser
NM_172349.3:c.4142A>G	NP_758859.1:p.Asn1381Ser