Canonical Allele Identifier: CA248755
Gene: NSD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 159301
dbSNP Id: rs28932179

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177211505G>C , CM000667.2:g.177211505G>C GRCh38
NC_000005.9:g.176638506G>C , CM000667.1:g.176638506G>C GRCh37
NC_000005.8:g.176571112G>C NCBI36
NG_009821.1:g.83427G>C , LRG_512:g.83427G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000508896.7:c.2233G>C ENSP00000423372.3:p.Ala745Pro
ENST00000347982.9:c.2233G>C ENSP00000343209.5:p.Ala745Pro
ENST00000354179.9:c.2233G>C ENSP00000346111.5:p.Ala745Pro
ENST00000510954.6:n.612+7213G>C
ENST00000685206.1:n.2689G>C
ENST00000686993.1:c.2233G>C ENSP00000510020.1:p.Ala745Pro
ENST00000687453.1:c.2797G>C ENSP00000508426.1:p.Ala933Pro
ENST00000688613.1:n.2503G>C
ENST00000689326.1:c.3106G>C ENSP00000509594.1:p.Ala1036Pro
ENST00000689345.1:c.2233G>C ENSP00000509711.1:p.Ala745Pro
ENST00000689549.1:n.3253G>C
ENST00000439151.7:c.3106G>C MANE Select ENSP00000395929.2:p.Ala1036Pro
ENST00000347982.8:c.2299G>C ENSP00000343209.4:p.Ala767Pro
ENST00000354179.8:c.2299G>C ENSP00000346111.4:p.Ala767Pro
ENST00000439151.6:c.3106G>C ENSP00000395929.2:p.Ala1036Pro
NM_022455.4:c.3106G>C , LRG_512t1:c.3106G>C NP_071900.2:p.Ala1036Pro
NM_172349.2:c.2299G>C NP_758859.1:p.Ala767Pro
XM_005265959.1:c.3106G>C XP_005266016.1:p.Ala1036Pro
XM_005265960.1:c.2299G>C XP_005266017.1:p.Ala767Pro
XM_005265961.1:c.2299G>C XP_005266018.1:p.Ala767Pro
XM_011534610.1:c.3106G>C XP_011532912.1:p.Ala1036Pro
XM_011534611.1:c.3106G>C XP_011532913.1:p.Ala1036Pro
XM_011534612.1:c.2686G>C XP_011532914.1:p.Ala896Pro
XM_011534613.1:c.2050G>C XP_011532915.1:p.Ala684Pro
XM_011534614.1:c.3106G>C XP_011532916.1:p.Ala1036Pro
XM_011534615.1:c.3106G>C XP_011532917.1:p.Ala1036Pro
XM_011534616.1:c.3106G>C XP_011532918.1:p.Ala1036Pro
NM_001365684.1:c.2299G>C NP_001352613.1:p.Ala767Pro
XM_024446150.1:c.3106G>C XP_024301918.1:p.Ala1036Pro
XM_024446151.1:c.3106G>C XP_024301919.1:p.Ala1036Pro
XM_024446152.1:c.3106G>C XP_024301920.1:p.Ala1036Pro
XM_024446153.1:c.3106G>C XP_024301921.1:p.Ala1036Pro
XM_024446154.1:c.2686G>C XP_024301922.1:p.Ala896Pro
XM_024446155.1:c.2299G>C XP_024301923.1:p.Ala767Pro
XM_024446156.1:c.2299G>C XP_024301924.1:p.Ala767Pro
XM_024446158.1:c.2299G>C XP_024301926.1:p.Ala767Pro
XM_024446159.1:c.2050G>C XP_024301927.1:p.Ala684Pro
XM_024446160.1:c.3106G>C XP_024301928.1:p.Ala1036Pro
XM_024446161.1:c.3106G>C XP_024301929.1:p.Ala1036Pro
XM_024446162.1:c.-890G>C XP_024301930.1:n.-890G>C
NM_022455.5:c.3106G>C MANE Select NP_071900.2:p.Ala1036Pro
NM_172349.3:c.2299G>C NP_758859.1:p.Ala767Pro