Canonical Allele Identifier: CA448717059
Gene: DSP HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.7585178C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7584945C>T , CM000668.2:g.7584945C>T GRCh38
NC_000006.11:g.7585178C>T , CM000668.1:g.7585178C>T GRCh37
NC_000006.10:g.7530177C>T NCBI36
NG_008803.1:g.48309C>T , LRG_423:g.48309C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.6354C>T ENSP00000518230.1:p.Ile2118=
ENST00000379802.8:c.7683C>T MANE Select ENSP00000369129.3:p.Ile2561=
ENST00000379802.7:c.7683C>T ENSP00000369129.3:p.Ile2561=
ENST00000418664.2:c.5886C>T ENSP00000396591.2:p.Ile1962=
NM_001008844.1:c.5886C>T NP_001008844.1:p.Ile1962=
NM_004415.2:c.7683C>T , LRG_423t1:c.7683C>T NP_004406.2:p.Ile2561=
XM_011514323.1:c.6354C>T XP_011512625.1:p.Ile2118=
NM_001008844.2:c.5886C>T NP_001008844.1:p.Ile1962=
NM_001319034.1:c.6354C>T NP_001305963.1:p.Ile2118=
NM_004415.3:c.7683C>T NP_004406.2:p.Ile2561=
NM_004415.4:c.7683C>T MANE Select NP_004406.2:p.Ile2561=
NM_001008844.3:c.5886C>T NP_001008844.1:p.Ile1962=
NM_001319034.2:c.6354C>T NP_001305963.1:p.Ile2118=