Canonical Allele Identifier: CA051213
Gene: DSP HGNC NCBI

Linked Data

dbSNP Id: rs774503383
gnomAD v2: 6-7585443-C-T
gnomAD v4: 6-7585210-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585210C>T , CM000668.2:g.7585210C>T GRCh38
NC_000006.11:g.7585443C>T , CM000668.1:g.7585443C>T GRCh37
NC_000006.10:g.7530442C>T NCBI36
NG_008803.1:g.48574C>T , LRG_423:g.48574C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.6619C>T ENSP00000518230.1:p.Leu2207Phe
ENST00000379802.8:c.7948C>T MANE Select ENSP00000369129.3:p.Leu2650Phe
ENST00000379802.7:c.7948C>T ENSP00000369129.3:p.Leu2650Phe
ENST00000418664.2:c.6151C>T ENSP00000396591.2:p.Leu2051Phe
NM_001008844.1:c.6151C>T NP_001008844.1:p.Leu2051Phe
NM_004415.2:c.7948C>T , LRG_423t1:c.7948C>T NP_004406.2:p.Leu2650Phe
XM_011514323.1:c.6619C>T XP_011512625.1:p.Leu2207Phe
NM_001008844.2:c.6151C>T NP_001008844.1:p.Leu2051Phe
NM_001319034.1:c.6619C>T NP_001305963.1:p.Leu2207Phe
NM_004415.3:c.7948C>T NP_004406.2:p.Leu2650Phe
NM_004415.4:c.7948C>T MANE Select NP_004406.2:p.Leu2650Phe
NM_001008844.3:c.6151C>T NP_001008844.1:p.Leu2051Phe
NM_001319034.2:c.6619C>T NP_001305963.1:p.Leu2207Phe