Canonical Allele Identifier: CA052174
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 653551
dbSNP Id: rs769734918
gnomAD v2: 6-7585885-T-C
gnomAD v3: 6-7585652-T-C
gnomAD v4: 6-7585652-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585652T>C , CM000668.2:g.7585652T>C GRCh38
NC_000006.11:g.7585885T>C , CM000668.1:g.7585885T>C GRCh37
NC_000006.10:g.7530884T>C NCBI36
NG_008803.1:g.49016T>C , LRG_423:g.49016T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.7061T>C ENSP00000518230.1:p.Ile2354Thr
ENST00000379802.8:c.8390T>C MANE Select ENSP00000369129.3:p.Ile2797Thr
ENST00000379802.7:c.8390T>C ENSP00000369129.3:p.Ile2797Thr
ENST00000418664.2:c.6593T>C ENSP00000396591.2:p.Ile2198Thr
NM_001008844.1:c.6593T>C NP_001008844.1:p.Ile2198Thr
NM_004415.2:c.8390T>C , LRG_423t1:c.8390T>C NP_004406.2:p.Ile2797Thr
XM_011514323.1:c.7061T>C XP_011512625.1:p.Ile2354Thr
NM_001008844.2:c.6593T>C NP_001008844.1:p.Ile2198Thr
NM_001319034.1:c.7061T>C NP_001305963.1:p.Ile2354Thr
NM_004415.3:c.8390T>C NP_004406.2:p.Ile2797Thr
NM_004415.4:c.8390T>C MANE Select NP_004406.2:p.Ile2797Thr
NM_001008844.3:c.6593T>C NP_001008844.1:p.Ile2198Thr
NM_001319034.2:c.7061T>C NP_001305963.1:p.Ile2354Thr