Canonical Allele Identifier: CA228228

Gene: DPYS

Linked Data

• ClinVar Variation Id: 100150
• ClinVar RCV Id: RCV000086533 ; RCV000374094
• dbSNP Id: rs182332679
• ExAC: 8:105479134 C / T
• gnomAD v2: 8-105479134-C-T
• gnomAD v3: 8-104466906-C-T
• gnomAD v4: 8-104466906-C-T
• COSMIC: COSM3431997
• MyVariant Identifiers: chr8:g.105479134C>T (hg19) ; chr8:g.104466906C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104466906C>T , CM000670.2:g.104466906C>T	GRCh38
NC_000008.10:g.105479134C>T , CM000670.1:g.105479134C>T	GRCh37
NC_000008.9:g.105548310C>T	NCBI36
NG_008840.1:g.5144G>A
NG_008840.2:g.5144G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000351513.7:c.15G>A MANE Select	ENSP00000276651.2:p.Ser5=
ENST00000351513.6:c.15G>A	ENSP00000276651.2:p.Ser5=
ENST00000521573.2:c.15G>A	ENSP00000430246.2:p.Ser5=
NM_001385.2:c.15G>A	NP_001376.1:p.Ser5=
XM_005250818.2:c.15G>A	XP_005250875.1:p.Ser5=
XM_006716518.2:c.15G>A	XP_006716581.1:p.Ser5=
XM_011516903.1:c.15G>A	XP_011515205.1:p.Ser5=
XM_011516904.1:c.15G>A	XP_011515206.1:p.Ser5=
XR_928507.1:n.112+919C>T
XM_005250818.3:c.15G>A	XP_005250875.1:p.Ser5=
XM_006716518.3:c.15G>A	XP_006716581.1:p.Ser5=
XM_011516903.3:c.15G>A	XP_011515205.1:p.Ser5=
XM_017013167.2:c.15G>A	XP_016868656.1:p.Ser5=
XM_024447087.1:c.15G>A	XP_024302855.1:p.Ser5=
XR_001745489.1:n.169G>A
XR_001745490.2:n.169G>A
XR_928507.2:n.233+919C>T
NM_001385.3:c.15G>A MANE Select	NP_001376.1:p.Ser5=