Canonical Allele Identifier: CA362695086
Gene: DSP HGNC NCBI

Linked Data

dbSNP Id: rs2113705070

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585670T>A , CM000668.2:g.7585670T>A GRCh38
NC_000006.11:g.7585903T>A , CM000668.1:g.7585903T>A GRCh37
NC_000006.10:g.7530902T>A NCBI36
NG_008803.1:g.49034T>A , LRG_423:g.49034T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.7079T>A ENSP00000518230.1:p.Leu2360Gln
ENST00000379802.8:c.8408T>A MANE Select ENSP00000369129.3:p.Leu2803Gln
ENST00000379802.7:c.8408T>A ENSP00000369129.3:p.Leu2803Gln
ENST00000418664.2:c.6611T>A ENSP00000396591.2:p.Leu2204Gln
NM_001008844.1:c.6611T>A NP_001008844.1:p.Leu2204Gln
NM_004415.2:c.8408T>A , LRG_423t1:c.8408T>A NP_004406.2:p.Leu2803Gln
XM_011514323.1:c.7079T>A XP_011512625.1:p.Leu2360Gln
NM_001008844.2:c.6611T>A NP_001008844.1:p.Leu2204Gln
NM_001319034.1:c.7079T>A NP_001305963.1:p.Leu2360Gln
NM_004415.3:c.8408T>A NP_004406.2:p.Leu2803Gln
NM_004415.4:c.8408T>A MANE Select NP_004406.2:p.Leu2803Gln
NM_001008844.3:c.6611T>A NP_001008844.1:p.Leu2204Gln
NM_001319034.2:c.7079T>A NP_001305963.1:p.Leu2360Gln