Canonical Allele Identifier: CA048714

Gene: DSP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584209A>G , CM000668.2:g.7584209A>G	GRCh38
NC_000006.11:g.7584442A>G , CM000668.1:g.7584442A>G	GRCh37
NC_000006.10:g.7529441A>G	NCBI36
NG_008803.1:g.47573A>G , LRG_423:g.47573A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004415.4:c.6947A>G MANE Select	NP_004406.2:p.Tyr2316Cys
ENST00000379802.8:c.6947A>G MANE Select	ENSP00000369129.3:p.Tyr2316Cys
NM_001008844.1:c.5150A>G	NP_001008844.1:p.Tyr1717Cys
NM_001008844.2:c.5150A>G	NP_001008844.1:p.Tyr1717Cys
NM_001008844.3:c.5150A>G	NP_001008844.1:p.Tyr1717Cys
NM_001319034.1:c.5618A>G	NP_001305963.1:p.Tyr1873Cys
NM_001319034.2:c.5618A>G	NP_001305963.1:p.Tyr1873Cys
NM_004415.2:c.6947A>G , LRG_423t1:c.6947A>G	NP_004406.2:p.Tyr2316Cys
NM_004415.3:c.6947A>G	NP_004406.2:p.Tyr2316Cys
ENST00000379802.7:c.6947A>G	ENSP00000369129.3:p.Tyr2316Cys
ENST00000418664.2:c.5150A>G	ENSP00000396591.2:p.Tyr1717Cys
ENST00000710359.1:c.5618A>G	ENSP00000518230.1:p.Tyr1873Cys
XM_011514323.1:c.5618A>G	XP_011512625.1:p.Tyr1873Cys