Canonical Allele Identifier: CA4838287

Gene: DPYS

Linked Data

• ClinVar Variation Id: 446083
• ClinVar RCV Id: RCV000514407 ; RCV001783010
• dbSNP Id: rs61758444
• ExAC: 8:105405032 G / A
• gnomAD v2: 8-105405032-G-A
• gnomAD v3: 8-104392804-G-A
• gnomAD v4: 8-104392804-G-A
• COSMIC: COSM3884523
• MyVariant Identifiers: chr8:g.105405032G>A (hg19) ; chr8:g.104392804G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104392804G>A , CM000670.2:g.104392804G>A	GRCh38
NC_000008.10:g.105405032G>A , CM000670.1:g.105405032G>A	GRCh37
NC_000008.9:g.105474208G>A	NCBI36
NG_008840.1:g.79246C>T
NG_008840.2:g.79246C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000351513.7:c.1423C>T MANE Select	ENSP00000276651.2:p.Arg475Ter
ENST00000351513.6:c.1423C>T	ENSP00000276651.2:p.Arg475Ter
ENST00000520483.5:n.327C>T
ENST00000521372.1:n.255C>T
ENST00000521601.1:n.198-11490C>T
ENST00000533874.1:c.53C>T
NM_001385.2:c.1423C>T	NP_001376.1:p.Arg475Ter
XM_005250818.2:c.1531C>T	XP_005250875.1:p.Arg511Ter
XM_006716518.2:c.1372C>T	XP_006716581.1:p.Arg458Ter
XM_011516903.1:c.1531C>T	XP_011515205.1:p.Arg511Ter
XM_005250818.3:c.1531C>T	XP_005250875.1:p.Arg511Ter
XM_006716518.3:c.1372C>T	XP_006716581.1:p.Arg458Ter
XM_011516903.3:c.1531C>T	XP_011515205.1:p.Arg511Ter
XM_024447087.1:c.1531C>T	XP_024302855.1:p.Arg511Ter
XR_001745489.1:n.2022C>T
XR_001745490.2:n.1914C>T
NM_001385.3:c.1423C>T MANE Select	NP_001376.1:p.Arg475Ter