Canonical Allele Identifier: CA362689832
Gene: DSP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7583242C>A , CM000668.2:g.7583242C>A GRCh38
NC_000006.11:g.7583475C>A , CM000668.1:g.7583475C>A GRCh37
NC_000006.10:g.7528474C>A NCBI36
NG_008803.1:g.46606C>A , LRG_423:g.46606C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.4651C>A ENSP00000518230.1:p.Leu1551Ile
ENST00000379802.8:c.5980C>A MANE Select ENSP00000369129.3:p.Leu1994Ile
ENST00000379802.7:c.5980C>A ENSP00000369129.3:p.Leu1994Ile
ENST00000418664.2:c.4183C>A ENSP00000396591.2:p.Leu1395Ile
NM_001008844.1:c.4183C>A NP_001008844.1:p.Leu1395Ile
NM_004415.2:c.5980C>A , LRG_423t1:c.5980C>A NP_004406.2:p.Leu1994Ile
XM_011514323.1:c.4651C>A XP_011512625.1:p.Leu1551Ile
NM_001008844.2:c.4183C>A NP_001008844.1:p.Leu1395Ile
NM_001319034.1:c.4651C>A NP_001305963.1:p.Leu1551Ile
NM_004415.3:c.5980C>A NP_004406.2:p.Leu1994Ile
NM_004415.4:c.5980C>A MANE Select NP_004406.2:p.Leu1994Ile
NM_001008844.3:c.4183C>A NP_001008844.1:p.Leu1395Ile
NM_001319034.2:c.4651C>A NP_001305963.1:p.Leu1551Ile