Canonical Allele Identifier: CA006614

Gene: DSP

Linked Data

• ClinVar Variation Id: 199893
• ClinVar RCV Id: RCV000181332 ; RCV003996655 ; RCV001069898
• dbSNP Id: rs794728126
• gnomAD v4: 6-7583051-C-G
• MyVariant Identifiers: chr6:g.7583284C>G (hg19) ; chr6:g.7583051C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583051C>G , CM000668.2:g.7583051C>G	GRCh38
NC_000006.11:g.7583284C>G , CM000668.1:g.7583284C>G	GRCh37
NC_000006.10:g.7528283C>G	NCBI36
NG_008803.1:g.46415C>G , LRG_423:g.46415C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4460C>G	ENSP00000518230.1:p.Thr1487Arg
ENST00000379802.8:c.5789C>G MANE Select	ENSP00000369129.3:p.Thr1930Arg
ENST00000379802.7:c.5789C>G	ENSP00000369129.3:p.Thr1930Arg
ENST00000418664.2:c.3992C>G	ENSP00000396591.2:p.Thr1331Arg
NM_001008844.1:c.3992C>G	NP_001008844.1:p.Thr1331Arg
NM_004415.2:c.5789C>G , LRG_423t1:c.5789C>G	NP_004406.2:p.Thr1930Arg
XM_011514323.1:c.4460C>G	XP_011512625.1:p.Thr1487Arg
NM_001008844.2:c.3992C>G	NP_001008844.1:p.Thr1331Arg
NM_001319034.1:c.4460C>G	NP_001305963.1:p.Thr1487Arg
NM_004415.3:c.5789C>G	NP_004406.2:p.Thr1930Arg
NM_004415.4:c.5789C>G MANE Select	NP_004406.2:p.Thr1930Arg
NM_001008844.3:c.3992C>G	NP_001008844.1:p.Thr1331Arg
NM_001319034.2:c.4460C>G	NP_001305963.1:p.Thr1487Arg