Canonical Allele Identifier: CA006604

Gene: DSP

Linked Data

• ClinVar Variation Id: 199844
• ClinVar RCV Id: RCV000181264 ; RCV000766885 ; RCV001189661 ; RCV000641787 ; RCV003165383 ; RCV003996635
• dbSNP Id: rs794728104
• gnomAD v2: 6-7583274-C-G
• gnomAD v3: 6-7583041-C-G
• gnomAD v4: 6-7583041-C-G
• MyVariant Identifiers: chr6:g.7583274C>G (hg19) ; chr6:g.7583041C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583041C>G , CM000668.2:g.7583041C>G	GRCh38
NC_000006.11:g.7583274C>G , CM000668.1:g.7583274C>G	GRCh37
NC_000006.10:g.7528273C>G	NCBI36
NG_008803.1:g.46405C>G , LRG_423:g.46405C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4450C>G	ENSP00000518230.1:p.Gln1484Glu
ENST00000379802.8:c.5779C>G MANE Select	ENSP00000369129.3:p.Gln1927Glu
ENST00000379802.7:c.5779C>G	ENSP00000369129.3:p.Gln1927Glu
ENST00000418664.2:c.3982C>G	ENSP00000396591.2:p.Gln1328Glu
NM_001008844.1:c.3982C>G	NP_001008844.1:p.Gln1328Glu
NM_004415.2:c.5779C>G , LRG_423t1:c.5779C>G	NP_004406.2:p.Gln1927Glu
XM_011514323.1:c.4450C>G	XP_011512625.1:p.Gln1484Glu
NM_001008844.2:c.3982C>G	NP_001008844.1:p.Gln1328Glu
NM_001319034.1:c.4450C>G	NP_001305963.1:p.Gln1484Glu
NM_004415.3:c.5779C>G	NP_004406.2:p.Gln1927Glu
NM_004415.4:c.5779C>G MANE Select	NP_004406.2:p.Gln1927Glu
NM_001008844.3:c.3982C>G	NP_001008844.1:p.Gln1328Glu
NM_001319034.2:c.4450C>G	NP_001305963.1:p.Gln1484Glu