Canonical Allele Identifier: CA448716996
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 2942655
ClinVar RCV Id: RCV003807821
dbSNP Id: rs1759608711
MyVariant Identifiers: chr6:g.7585446C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585213C>T , CM000668.2:g.7585213C>T GRCh38
NC_000006.11:g.7585446C>T , CM000668.1:g.7585446C>T GRCh37
NC_000006.10:g.7530445C>T NCBI36
NG_008803.1:g.48577C>T , LRG_423:g.48577C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.6622C>T ENSP00000518230.1:p.Leu2208=
ENST00000379802.8:c.7951C>T MANE Select ENSP00000369129.3:p.Leu2651=
ENST00000379802.7:c.7951C>T ENSP00000369129.3:p.Leu2651=
ENST00000418664.2:c.6154C>T ENSP00000396591.2:p.Leu2052=
NM_001008844.1:c.6154C>T NP_001008844.1:p.Leu2052=
NM_004415.2:c.7951C>T , LRG_423t1:c.7951C>T NP_004406.2:p.Leu2651=
XM_011514323.1:c.6622C>T XP_011512625.1:p.Leu2208=
NM_001008844.2:c.6154C>T NP_001008844.1:p.Leu2052=
NM_001319034.1:c.6622C>T NP_001305963.1:p.Leu2208=
NM_004415.3:c.7951C>T NP_004406.2:p.Leu2651=
NM_004415.4:c.7951C>T MANE Select NP_004406.2:p.Leu2651=
NM_001008844.3:c.6154C>T NP_001008844.1:p.Leu2052=
NM_001319034.2:c.6622C>T NP_001305963.1:p.Leu2208=