Canonical Allele Identifier: CA004862
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 44856
ClinVar RCV Id: RCV000208168 RCV000991215 RCV001056868 RCV000770234 RCV001813751 RCV002371832 RCV003330410 RCV003996331
dbSNP Id: rs397516915
ExAC: 6:7568676 C / T
gnomAD v2: 6-7568676-C-T
gnomAD v4: 6-7568443-C-T
COSMIC: COSM1742667
MyVariant Identifiers: chr6:g.7568676C>T (hg19) chr6:g.7568443C>T (hg38)
PubMed: PMID:22555271
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7568443C>T , CM000668.2:g.7568443C>T GRCh38
NC_000006.11:g.7568676C>T , CM000668.1:g.7568676C>T GRCh37
NC_000006.10:g.7513675C>T NCBI36
NG_008803.1:g.31807C>T , LRG_423:g.31807C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.1273C>T ENSP00000518230.1:p.Arg425Ter
ENST00000682228.1:n.1458C>T
ENST00000379802.8:c.1273C>T MANE Select ENSP00000369129.3:p.Arg425Ter
ENST00000379802.7:c.1273C>T ENSP00000369129.3:p.Arg425Ter
ENST00000418664.2:c.1273C>T ENSP00000396591.2:p.Arg425Ter
NM_001008844.1:c.1273C>T NP_001008844.1:p.Arg425Ter
NM_004415.2:c.1273C>T , LRG_423t1:c.1273C>T NP_004406.2:p.Arg425Ter
XM_011514323.1:c.1273C>T XP_011512625.1:p.Arg425Ter
NM_001008844.2:c.1273C>T NP_001008844.1:p.Arg425Ter
NM_001319034.1:c.1273C>T NP_001305963.1:p.Arg425Ter
NM_004415.3:c.1273C>T NP_004406.2:p.Arg425Ter
NM_004415.4:c.1273C>T MANE Select NP_004406.2:p.Arg425Ter
NM_001008844.3:c.1273C>T NP_001008844.1:p.Arg425Ter
NM_001319034.2:c.1273C>T NP_001305963.1:p.Arg425Ter
Search 100 bp 5'
Search 100 bp 3'