Canonical Allele Identifier: CA037298
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 357947
ClinVar RCV Id: RCV000272182 RCV000322535 RCV000379457 RCV000485378 RCV000470079 RCV001190426 RCV002480238 RCV002323559 RCV003995896
dbSNP Id: rs751361395
ExAC: 6:7579569 C / T
gnomAD v2: 6-7579569-C-T
gnomAD v3: 6-7579336-C-T
gnomAD v4: 6-7579336-C-T
MyVariant Identifiers: chr6:g.7579569C>T (hg19) chr6:g.7579336C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7579336C>T , CM000668.2:g.7579336C>T GRCh38
NC_000006.11:g.7579569C>T , CM000668.1:g.7579569C>T GRCh37
NC_000006.10:g.7524568C>T NCBI36
NG_008803.1:g.42700C>T , LRG_423:g.42700C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.3146C>T ENSP00000518230.1:p.Ser1049Leu
ENST00000379802.8:c.3146C>T MANE Select ENSP00000369129.3:p.Ser1049Leu
ENST00000379802.7:c.3146C>T ENSP00000369129.3:p.Ser1049Leu
ENST00000418664.2:c.3146C>T ENSP00000396591.2:p.Ser1049Leu
NM_001008844.1:c.3146C>T NP_001008844.1:p.Ser1049Leu
NM_004415.2:c.3146C>T , LRG_423t1:c.3146C>T NP_004406.2:p.Ser1049Leu
XM_011514323.1:c.3146C>T XP_011512625.1:p.Ser1049Leu
NM_001008844.2:c.3146C>T NP_001008844.1:p.Ser1049Leu
NM_001319034.1:c.3146C>T NP_001305963.1:p.Ser1049Leu
NM_004415.3:c.3146C>T NP_004406.2:p.Ser1049Leu
NM_004415.4:c.3146C>T MANE Select NP_004406.2:p.Ser1049Leu
NM_001008844.3:c.3146C>T NP_001008844.1:p.Ser1049Leu
NM_001319034.2:c.3146C>T NP_001305963.1:p.Ser1049Leu
Search 100 bp 5'
Search 100 bp 3'