Canonical Allele Identifier: CA050795

Gene: DSP

Linked Data

• ClinVar Variation Id: 922453
• ClinVar RCV Id: RCV001182549 ; RCV001876062 ; RCV002411689 ; RCV002505774
• dbSNP Id: rs563272509
• ExAC: 6:7585273 T / G
• gnomAD v3: 6-7585040-T-G
• gnomAD v4: 6-7585040-T-G
• MyVariant Identifiers: chr6:g.7585273T>G (hg19) ; chr6:g.7585040T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585040T>G , CM000668.2:g.7585040T>G	GRCh38
NC_000006.11:g.7585273T>G , CM000668.1:g.7585273T>G	GRCh37
NC_000006.10:g.7530272T>G	NCBI36
NG_008803.1:g.48404T>G , LRG_423:g.48404T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6449T>G	ENSP00000518230.1:p.Ile2150Ser
ENST00000379802.8:c.7778T>G MANE Select	ENSP00000369129.3:p.Ile2593Ser
ENST00000379802.7:c.7778T>G	ENSP00000369129.3:p.Ile2593Ser
ENST00000418664.2:c.5981T>G	ENSP00000396591.2:p.Ile1994Ser
NM_001008844.1:c.5981T>G	NP_001008844.1:p.Ile1994Ser
NM_004415.2:c.7778T>G , LRG_423t1:c.7778T>G	NP_004406.2:p.Ile2593Ser
XM_011514323.1:c.6449T>G	XP_011512625.1:p.Ile2150Ser
NM_001008844.2:c.5981T>G	NP_001008844.1:p.Ile1994Ser
NM_001319034.1:c.6449T>G	NP_001305963.1:p.Ile2150Ser
NM_004415.3:c.7778T>G	NP_004406.2:p.Ile2593Ser
NM_004415.4:c.7778T>G MANE Select	NP_004406.2:p.Ile2593Ser
NM_001008844.3:c.5981T>G	NP_001008844.1:p.Ile1994Ser
NM_001319034.2:c.6449T>G	NP_001305963.1:p.Ile2150Ser