Canonical Allele Identifier: CA362694063
Gene: DSP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585183A>C , CM000668.2:g.7585183A>C GRCh38
NC_000006.11:g.7585416A>C , CM000668.1:g.7585416A>C GRCh37
NC_000006.10:g.7530415A>C NCBI36
NG_008803.1:g.48547A>C , LRG_423:g.48547A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.6592A>C ENSP00000518230.1:p.Ile2198Leu
ENST00000379802.8:c.7921A>C MANE Select ENSP00000369129.3:p.Ile2641Leu
ENST00000379802.7:c.7921A>C ENSP00000369129.3:p.Ile2641Leu
ENST00000418664.2:c.6124A>C ENSP00000396591.2:p.Ile2042Leu
NM_001008844.1:c.6124A>C NP_001008844.1:p.Ile2042Leu
NM_004415.2:c.7921A>C , LRG_423t1:c.7921A>C NP_004406.2:p.Ile2641Leu
XM_011514323.1:c.6592A>C XP_011512625.1:p.Ile2198Leu
NM_001008844.2:c.6124A>C NP_001008844.1:p.Ile2042Leu
NM_001319034.1:c.6592A>C NP_001305963.1:p.Ile2198Leu
NM_004415.3:c.7921A>C NP_004406.2:p.Ile2641Leu
NM_004415.4:c.7921A>C MANE Select NP_004406.2:p.Ile2641Leu
NM_001008844.3:c.6124A>C NP_001008844.1:p.Ile2042Leu
NM_001319034.2:c.6592A>C NP_001305963.1:p.Ile2198Leu