Canonical Allele Identifier: CA005529

Gene: DSP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7555821G>A , CM000668.2:g.7555821G>A	GRCh38
NC_000006.11:g.7556054G>A , CM000668.1:g.7556054G>A	GRCh37
NC_000006.10:g.7501053G>A	NCBI36
NG_008803.1:g.19185G>A , LRG_423:g.19185G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004415.4:c.273+1G>A MANE Select	NP_004406.2:n.273+1G>A
ENST00000379802.8:c.273+1G>A MANE Select	ENSP00000369129.3:n.273+1G>A
NM_001008844.1:c.273+1G>A	NP_001008844.1:n.273+1G>A
NM_001008844.2:c.273+1G>A	NP_001008844.1:n.273+1G>A
NM_001008844.3:c.273+1G>A	NP_001008844.1:n.273+1G>A
NM_001319034.1:c.273+1G>A	NP_001305963.1:n.273+1G>A
NM_001319034.2:c.273+1G>A	NP_001305963.1:n.273+1G>A
NM_004415.2:c.273+1G>A , LRG_423t1:c.273+1G>A	NP_004406.2:n.273+1G>A
NM_004415.3:c.273+1G>A	NP_004406.2:n.273+1G>A
ENST00000379802.7:c.273+1G>A	ENSP00000369129.3:n.273+1G>A
ENST00000418664.2:c.273+1G>A	ENSP00000396591.2:n.273+1G>A
ENST00000683563.1:n.165+1G>A
ENST00000683682.1:c.169G>A	ENSP00000508162.1:p.Val57Ile
ENST00000683682.2:c.274G>A	ENSP00000508162.2:p.Val92Ile
ENST00000710359.1:c.273+1G>A	ENSP00000518230.1:n.273+1G>A
XM_011514323.1:c.273+1G>A	XP_011512625.1:n.273+1G>A