Canonical Allele Identifier: CA046258
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 2418079
dbSNP Id: rs760548186
gnomAD v2: 6-7583467-T-C
gnomAD v4: 6-7583234-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7583234T>C , CM000668.2:g.7583234T>C GRCh38
NC_000006.11:g.7583467T>C , CM000668.1:g.7583467T>C GRCh37
NC_000006.10:g.7528466T>C NCBI36
NG_008803.1:g.46598T>C , LRG_423:g.46598T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.4643T>C ENSP00000518230.1:p.Leu1548Ser
ENST00000379802.8:c.5972T>C MANE Select ENSP00000369129.3:p.Leu1991Ser
ENST00000379802.7:c.5972T>C ENSP00000369129.3:p.Leu1991Ser
ENST00000418664.2:c.4175T>C ENSP00000396591.2:p.Leu1392Ser
NM_001008844.1:c.4175T>C NP_001008844.1:p.Leu1392Ser
NM_004415.2:c.5972T>C , LRG_423t1:c.5972T>C NP_004406.2:p.Leu1991Ser
XM_011514323.1:c.4643T>C XP_011512625.1:p.Leu1548Ser
NM_001008844.2:c.4175T>C NP_001008844.1:p.Leu1392Ser
NM_001319034.1:c.4643T>C NP_001305963.1:p.Leu1548Ser
NM_004415.3:c.5972T>C NP_004406.2:p.Leu1991Ser
NM_004415.4:c.5972T>C MANE Select NP_004406.2:p.Leu1991Ser
NM_001008844.3:c.4175T>C NP_001008844.1:p.Leu1392Ser
NM_001319034.2:c.4643T>C NP_001305963.1:p.Leu1548Ser