Canonical Allele Identifier: CA3578018

Gene: NSD1

Linked Data

• ClinVar Variation Id: 501387
• ClinVar RCV Id: RCV000592254 ; RCV003231538 ; RCV003945425
• dbSNP Id: rs545039997
• ExAC: 5:176720828 T / C
• gnomAD v2: 5-176720828-T-C
• gnomAD v3: 5-177293827-T-C
• gnomAD v4: 5-177293827-T-C
• MyVariant Identifiers: chr5:g.176720828T>C (hg19) ; chr5:g.177293827T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177293827T>C , CM000667.2:g.177293827T>C	GRCh38
NC_000005.9:g.176720828T>C , CM000667.1:g.176720828T>C	GRCh37
NC_000005.8:g.176653434T>C	NCBI36
NG_009821.1:g.165749T>C , LRG_512:g.165749T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.5591-5T>C	ENSP00000423372.3:n.5591-5T>C
ENST00000347982.9:c.5591-5T>C	ENSP00000343209.5:n.5591-5T>C
ENST00000354179.9:c.5591-5T>C	ENSP00000346111.5:n.5591-5T>C
ENST00000503056.6:c.1106-5T>C	ENSP00000424024.2:n.1106-5T>C
ENST00000508029.6:c.1106-5T>C	ENSP00000425120.2:n.1106-5T>C
ENST00000685206.1:n.6047-5T>C
ENST00000686385.1:n.880-5T>C
ENST00000686993.1:c.5591-5T>C	ENSP00000510020.1:n.5591-5T>C
ENST00000687453.1:c.6155-5T>C	ENSP00000508426.1:n.6155-5T>C
ENST00000688613.1:n.5861-5T>C
ENST00000689345.1:c.5591-5T>C	ENSP00000509711.1:n.5591-5T>C
ENST00000439151.7:c.6464-5T>C MANE Select	ENSP00000395929.2:n.6464-5T>C
ENST00000347982.8:c.5657-5T>C	ENSP00000343209.4:n.5657-5T>C
ENST00000354179.8:c.5657-5T>C	ENSP00000346111.4:n.5657-5T>C
ENST00000439151.6:c.6464-5T>C	ENSP00000395929.2:n.6464-5T>C
NM_022455.4:c.6464-5T>C , LRG_512t1:c.6464-5T>C	NP_071900.2:n.6464-5T>C
NM_172349.2:c.5657-5T>C	NP_758859.1:n.5657-5T>C
XM_005265959.1:c.6464-5T>C	XP_005266016.1:n.6464-5T>C
XM_005265960.1:c.5657-5T>C	XP_005266017.1:n.5657-5T>C
XM_005265961.1:c.5657-5T>C	XP_005266018.1:n.5657-5T>C
XM_005265962.3:c.1958-5T>C	XP_005266019.1:n.1958-5T>C
XM_011534610.1:c.6464-5T>C	XP_011532912.1:n.6464-5T>C
XM_011534611.1:c.6464-5T>C	XP_011532913.1:n.6464-5T>C
XM_011534612.1:c.6044-5T>C	XP_011532914.1:n.6044-5T>C
XM_011534613.1:c.5408-5T>C	XP_011532915.1:n.5408-5T>C
XM_011534617.1:c.2198-5T>C	XP_011532919.1:n.2198-5T>C
NM_001365684.1:c.5657-5T>C	NP_001352613.1:n.5657-5T>C
XM_024446150.1:c.6464-5T>C	XP_024301918.1:n.6464-5T>C
XM_024446151.1:c.6464-5T>C	XP_024301919.1:n.6464-5T>C
XM_024446152.1:c.6464-5T>C	XP_024301920.1:n.6464-5T>C
XM_024446153.1:c.6464-5T>C	XP_024301921.1:n.6464-5T>C
XM_024446154.1:c.6044-5T>C	XP_024301922.1:n.6044-5T>C
XM_024446155.1:c.5657-5T>C	XP_024301923.1:n.5657-5T>C
XM_024446156.1:c.5657-5T>C	XP_024301924.1:n.5657-5T>C
XM_024446158.1:c.5657-5T>C	XP_024301926.1:n.5657-5T>C
XM_024446159.1:c.5408-5T>C	XP_024301927.1:n.5408-5T>C
XM_024446162.1:c.2198-5T>C	XP_024301930.1:n.2198-5T>C
XM_024446163.1:c.1958-5T>C	XP_024301931.1:n.1958-5T>C
NM_022455.5:c.6464-5T>C MANE Select	NP_071900.2:n.6464-5T>C
NM_172349.3:c.5657-5T>C	NP_758859.1:n.5657-5T>C