Canonical Allele Identifier: CA004249

Gene: DSP

Linked Data

• ClinVar Variation Id: 191639
• ClinVar RCV Id: RCV000171914 ; RCV000693151 ; RCV001523968 ; RCV002453593 ; RCV003387786
• dbSNP Id: rs202049575
• ExAC: 6:7580023 T / G
• gnomAD v2: 6-7580023-T-G
• gnomAD v3: 6-7579790-T-G
• gnomAD v4: 6-7579790-T-G
• MyVariant Identifiers: chr6:g.7580023T>G (hg19) ; chr6:g.7579790T>G (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579790T>G , CM000668.2:g.7579790T>G	GRCh38
NC_000006.11:g.7580023T>G , CM000668.1:g.7580023T>G	GRCh37
NC_000006.10:g.7525022T>G	NCBI36
NG_008803.1:g.43154T>G , LRG_423:g.43154T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3600T>G	ENSP00000518230.1:p.Asn1200Lys
ENST00000379802.8:c.3600T>G MANE Select	ENSP00000369129.3:p.Asn1200Lys
ENST00000379802.7:c.3600T>G	ENSP00000369129.3:p.Asn1200Lys
ENST00000418664.2:c.3582+18T>G	ENSP00000396591.2:n.3582+18T>G
NM_001008844.1:c.3582+18T>G	NP_001008844.1:n.3582+18T>G
NM_004415.2:c.3600T>G , LRG_423t1:c.3600T>G	NP_004406.2:p.Asn1200Lys
XM_011514323.1:c.3600T>G	XP_011512625.1:p.Asn1200Lys
NM_001008844.2:c.3582+18T>G	NP_001008844.1:n.3582+18T>G
NM_001319034.1:c.3600T>G	NP_001305963.1:p.Asn1200Lys
NM_004415.3:c.3600T>G	NP_004406.2:p.Asn1200Lys
NM_004415.4:c.3600T>G MANE Select	NP_004406.2:p.Asn1200Lys
NM_001008844.3:c.3582+18T>G	NP_001008844.1:n.3582+18T>G
NM_001319034.2:c.3600T>G	NP_001305963.1:p.Asn1200Lys