Canonical Allele Identifier: CA3577132

Gene: NSD1

Linked Data

• dbSNP Id: rs564464928
• ExAC: 5:176637063 G / A
• gnomAD v2: 5-176637063-G-A
• gnomAD v3: 5-177210062-G-A
• gnomAD v4: 5-177210062-G-A
• MyVariant Identifiers: chr5:g.176637063G>A (hg19) ; chr5:g.177210062G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177210062G>A , CM000667.2:g.177210062G>A	GRCh38
NC_000005.9:g.176637063G>A , CM000667.1:g.176637063G>A	GRCh37
NC_000005.8:g.176569669G>A	NCBI36
NG_009821.1:g.81984G>A , LRG_512:g.81984G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000508896.7:c.790G>A	ENSP00000423372.3:p.Ala264Thr
ENST00000347982.9:c.790G>A	ENSP00000343209.5:p.Ala264Thr
ENST00000354179.9:c.790G>A	ENSP00000346111.5:p.Ala264Thr
ENST00000508896.6:c.790G>A	ENSP00000423372.2:p.Ala264Thr
ENST00000510954.6:n.612+5770G>A
ENST00000638627.3:c.607G>A	ENSP00000492679.3:p.Ala203Thr
ENST00000644863.2:c.607G>A	ENSP00000496157.2:p.Ala203Thr
ENST00000685206.1:n.1246G>A
ENST00000686993.1:c.790G>A	ENSP00000510020.1:p.Ala264Thr
ENST00000687453.1:c.1354G>A	ENSP00000508426.1:p.Ala452Thr
ENST00000688613.1:n.1060G>A
ENST00000689326.1:c.1663G>A	ENSP00000509594.1:p.Ala555Thr
ENST00000689345.1:c.790G>A	ENSP00000509711.1:p.Ala264Thr
ENST00000689549.1:n.1810G>A
ENST00000439151.7:c.1663G>A MANE Select	ENSP00000395929.2:p.Ala555Thr
ENST00000638627.2:c.*756G>A	ENSP00000492679.2:n.*756G>A
ENST00000644863.1:c.*972G>A	ENSP00000496157.1:n.*972G>A
ENST00000347982.8:c.856G>A	ENSP00000343209.4:p.Ala286Thr
ENST00000354179.8:c.856G>A	ENSP00000346111.4:p.Ala286Thr
ENST00000439151.6:c.1663G>A	ENSP00000395929.2:p.Ala555Thr
NM_022455.4:c.1663G>A , LRG_512t1:c.1663G>A	NP_071900.2:p.Ala555Thr
NM_172349.2:c.856G>A	NP_758859.1:p.Ala286Thr
XM_005265959.1:c.1663G>A	XP_005266016.1:p.Ala555Thr
XM_005265960.1:c.856G>A	XP_005266017.1:p.Ala286Thr
XM_005265961.1:c.856G>A	XP_005266018.1:p.Ala286Thr
XM_011534610.1:c.1663G>A	XP_011532912.1:p.Ala555Thr
XM_011534611.1:c.1663G>A	XP_011532913.1:p.Ala555Thr
XM_011534612.1:c.1243G>A	XP_011532914.1:p.Ala415Thr
XM_011534613.1:c.607G>A	XP_011532915.1:p.Ala203Thr
XM_011534614.1:c.1663G>A	XP_011532916.1:p.Ala555Thr
XM_011534615.1:c.1663G>A	XP_011532917.1:p.Ala555Thr
XM_011534616.1:c.1663G>A	XP_011532918.1:p.Ala555Thr
NM_001365684.1:c.856G>A	NP_001352613.1:p.Ala286Thr
XM_024446150.1:c.1663G>A	XP_024301918.1:p.Ala555Thr
XM_024446151.1:c.1663G>A	XP_024301919.1:p.Ala555Thr
XM_024446152.1:c.1663G>A	XP_024301920.1:p.Ala555Thr
XM_024446153.1:c.1663G>A	XP_024301921.1:p.Ala555Thr
XM_024446154.1:c.1243G>A	XP_024301922.1:p.Ala415Thr
XM_024446155.1:c.856G>A	XP_024301923.1:p.Ala286Thr
XM_024446156.1:c.856G>A	XP_024301924.1:p.Ala286Thr
XM_024446158.1:c.856G>A	XP_024301926.1:p.Ala286Thr
XM_024446159.1:c.607G>A	XP_024301927.1:p.Ala203Thr
XM_024446160.1:c.1663G>A	XP_024301928.1:p.Ala555Thr
XM_024446161.1:c.1663G>A	XP_024301929.1:p.Ala555Thr
XM_024446162.1:c.-2333G>A	XP_024301930.1:n.-2333G>A
NM_022455.5:c.1663G>A MANE Select	NP_071900.2:p.Ala555Thr
NM_172349.3:c.856G>A	NP_758859.1:p.Ala286Thr