Canonical Allele Identifier: CA448531297

Gene: DSP

Linked Data

• ClinVar Variation Id: 923271
• ClinVar RCV Id: RCV001183845 ; RCV003770030
• dbSNP Id: rs1759653585
• MyVariant Identifiers: chr6:g.7586054A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585821A>G , CM000668.2:g.7585821A>G	GRCh38
NC_000006.11:g.7586054A>G , CM000668.1:g.7586054A>G	GRCh37
NC_000006.10:g.7531053A>G	NCBI36
NG_008803.1:g.49185A>G , LRG_423:g.49185A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.7230A>G	ENSP00000518230.1:p.Thr2410=
ENST00000379802.8:c.8559A>G MANE Select	ENSP00000369129.3:p.Thr2853=
ENST00000379802.7:c.8559A>G	ENSP00000369129.3:p.Thr2853=
ENST00000418664.2:c.6762A>G	ENSP00000396591.2:p.Thr2254=
NM_001008844.1:c.6762A>G	NP_001008844.1:p.Thr2254=
NM_004415.2:c.8559A>G , LRG_423t1:c.8559A>G	NP_004406.2:p.Thr2853=
XM_011514323.1:c.7230A>G	XP_011512625.1:p.Thr2410=
NM_001008844.2:c.6762A>G	NP_001008844.1:p.Thr2254=
NM_001319034.1:c.7230A>G	NP_001305963.1:p.Thr2410=
NM_004415.3:c.8559A>G	NP_004406.2:p.Thr2853=
NM_004415.4:c.8559A>G MANE Select	NP_004406.2:p.Thr2853=
NM_001008844.3:c.6762A>G	NP_001008844.1:p.Thr2254=
NM_001319034.2:c.7230A>G	NP_001305963.1:p.Thr2410=