Canonical Allele Identifier: CA049017

Gene: DSP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584301A>G , CM000668.2:g.7584301A>G	GRCh38
NC_000006.11:g.7584534A>G , CM000668.1:g.7584534A>G	GRCh37
NC_000006.10:g.7529533A>G	NCBI36
NG_008803.1:g.47665A>G , LRG_423:g.47665A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004415.4:c.7039A>G MANE Select	NP_004406.2:p.Ile2347Val
ENST00000379802.8:c.7039A>G MANE Select	ENSP00000369129.3:p.Ile2347Val
NM_001008844.1:c.5242A>G	NP_001008844.1:p.Ile1748Val
NM_001008844.2:c.5242A>G	NP_001008844.1:p.Ile1748Val
NM_001008844.3:c.5242A>G	NP_001008844.1:p.Ile1748Val
NM_001319034.1:c.5710A>G	NP_001305963.1:p.Ile1904Val
NM_001319034.2:c.5710A>G	NP_001305963.1:p.Ile1904Val
NM_004415.2:c.7039A>G , LRG_423t1:c.7039A>G	NP_004406.2:p.Ile2347Val
NM_004415.3:c.7039A>G	NP_004406.2:p.Ile2347Val
ENST00000379802.7:c.7039A>G	ENSP00000369129.3:p.Ile2347Val
ENST00000418664.2:c.5242A>G	ENSP00000396591.2:p.Ile1748Val
ENST00000710359.1:c.5710A>G	ENSP00000518230.1:p.Ile1904Val
XM_011514323.1:c.5710A>G	XP_011512625.1:p.Ile1904Val