Canonical Allele Identifier: CA051060
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 357965
dbSNP Id: rs147484870
gnomAD v2: 6-7585378-T-C
gnomAD v3: 6-7585145-T-C
gnomAD v4: 6-7585145-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585145T>C , CM000668.2:g.7585145T>C GRCh38
NC_000006.11:g.7585378T>C , CM000668.1:g.7585378T>C GRCh37
NC_000006.10:g.7530377T>C NCBI36
NG_008803.1:g.48509T>C , LRG_423:g.48509T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.6554T>C ENSP00000518230.1:p.Leu2185Pro
ENST00000379802.8:c.7883T>C MANE Select ENSP00000369129.3:p.Leu2628Pro
ENST00000379802.7:c.7883T>C ENSP00000369129.3:p.Leu2628Pro
ENST00000418664.2:c.6086T>C ENSP00000396591.2:p.Leu2029Pro
NM_001008844.1:c.6086T>C NP_001008844.1:p.Leu2029Pro
NM_004415.2:c.7883T>C , LRG_423t1:c.7883T>C NP_004406.2:p.Leu2628Pro
XM_011514323.1:c.6554T>C XP_011512625.1:p.Leu2185Pro
NM_001008844.2:c.6086T>C NP_001008844.1:p.Leu2029Pro
NM_001319034.1:c.6554T>C NP_001305963.1:p.Leu2185Pro
NM_004415.3:c.7883T>C NP_004406.2:p.Leu2628Pro
NM_004415.4:c.7883T>C MANE Select NP_004406.2:p.Leu2628Pro
NM_001008844.3:c.6086T>C NP_001008844.1:p.Leu2029Pro
NM_001319034.2:c.6554T>C NP_001305963.1:p.Leu2185Pro