Canonical Allele Identifier: CA294995

Gene: NSD1

Linked Data

• ClinVar Variation Id: 159383
• ClinVar RCV Id: RCV003231282
• dbSNP Id: rs587784162
• MyVariant Identifiers: chr5:g.176707828T>C (hg19) ; chr5:g.177280827T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177280827T>C , CM000667.2:g.177280827T>C	GRCh38
NC_000005.9:g.176707828T>C , CM000667.1:g.176707828T>C	GRCh37
NC_000005.8:g.176640434T>C	NCBI36
NG_009821.1:g.152749T>C , LRG_512:g.152749T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.5012T>C	ENSP00000423372.3:p.Ile1671Thr
ENST00000347982.9:c.5012T>C	ENSP00000343209.5:p.Ile1671Thr
ENST00000354179.9:c.5012T>C	ENSP00000346111.5:p.Ile1671Thr
ENST00000503056.6:c.527T>C	ENSP00000424024.2:p.Ile176Thr
ENST00000508029.6:c.527T>C	ENSP00000425120.2:p.Ile176Thr
ENST00000685206.1:n.5468T>C
ENST00000686993.1:c.5012T>C	ENSP00000510020.1:p.Ile1671Thr
ENST00000687453.1:c.5576T>C	ENSP00000508426.1:p.Ile1859Thr
ENST00000688613.1:n.5282T>C
ENST00000689345.1:c.5012T>C	ENSP00000509711.1:p.Ile1671Thr
ENST00000689549.1:n.6032T>C
ENST00000692024.1:n.2804T>C
ENST00000439151.7:c.5885T>C MANE Select	ENSP00000395929.2:p.Ile1962Thr
ENST00000347982.8:c.5078T>C	ENSP00000343209.4:p.Ile1693Thr
ENST00000354179.8:c.5078T>C	ENSP00000346111.4:p.Ile1693Thr
ENST00000439151.6:c.5885T>C	ENSP00000395929.2:p.Ile1962Thr
NM_022455.4:c.5885T>C , LRG_512t1:c.5885T>C	NP_071900.2:p.Ile1962Thr
NM_172349.2:c.5078T>C	NP_758859.1:p.Ile1693Thr
XM_005265959.1:c.5885T>C	XP_005266016.1:p.Ile1962Thr
XM_005265960.1:c.5078T>C	XP_005266017.1:p.Ile1693Thr
XM_005265961.1:c.5078T>C	XP_005266018.1:p.Ile1693Thr
XM_005265962.3:c.1379T>C	XP_005266019.1:p.Ile460Thr
XM_011534610.1:c.5885T>C	XP_011532912.1:p.Ile1962Thr
XM_011534611.1:c.5885T>C	XP_011532913.1:p.Ile1962Thr
XM_011534612.1:c.5465T>C	XP_011532914.1:p.Ile1822Thr
XM_011534613.1:c.4829T>C	XP_011532915.1:p.Ile1610Thr
XM_011534617.1:c.1619T>C	XP_011532919.1:p.Ile540Thr
NM_001365684.1:c.5078T>C	NP_001352613.1:p.Ile1693Thr
XM_024446150.1:c.5885T>C	XP_024301918.1:p.Ile1962Thr
XM_024446151.1:c.5885T>C	XP_024301919.1:p.Ile1962Thr
XM_024446152.1:c.5885T>C	XP_024301920.1:p.Ile1962Thr
XM_024446153.1:c.5885T>C	XP_024301921.1:p.Ile1962Thr
XM_024446154.1:c.5465T>C	XP_024301922.1:p.Ile1822Thr
XM_024446155.1:c.5078T>C	XP_024301923.1:p.Ile1693Thr
XM_024446156.1:c.5078T>C	XP_024301924.1:p.Ile1693Thr
XM_024446158.1:c.5078T>C	XP_024301926.1:p.Ile1693Thr
XM_024446159.1:c.4829T>C	XP_024301927.1:p.Ile1610Thr
XM_024446162.1:c.1619T>C	XP_024301930.1:p.Ile540Thr
XM_024446163.1:c.1379T>C	XP_024301931.1:p.Ile460Thr
NM_022455.5:c.5885T>C MANE Select	NP_071900.2:p.Ile1962Thr
NM_172349.3:c.5078T>C	NP_758859.1:p.Ile1693Thr