Canonical Allele Identifier: CA362685179

Gene: DSP

Linked Data

• ClinVar Variation Id: 517658
• ClinVar RCV Id: RCV000616412
• dbSNP Id: rs1554108214
• MyVariant Identifiers: chr6:g.7580358C>G (hg19) ; chr6:g.7580125C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7580125C>G , CM000668.2:g.7580125C>G	GRCh38
NC_000006.11:g.7580358C>G , CM000668.1:g.7580358C>G	GRCh37
NC_000006.10:g.7525357C>G	NCBI36
NG_008803.1:g.43489C>G , LRG_423:g.43489C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3935C>G	ENSP00000518230.1:p.Ser1312Cys
ENST00000379802.8:c.3935C>G MANE Select	ENSP00000369129.3:p.Ser1312Cys
ENST00000379802.7:c.3935C>G	ENSP00000369129.3:p.Ser1312Cys
ENST00000418664.2:c.3582+353C>G	ENSP00000396591.2:n.3582+353C>G
NM_001008844.1:c.3582+353C>G	NP_001008844.1:n.3582+353C>G
NM_004415.2:c.3935C>G , LRG_423t1:c.3935C>G	NP_004406.2:p.Ser1312Cys
XM_011514323.1:c.3935C>G	XP_011512625.1:p.Ser1312Cys
NM_001008844.2:c.3582+353C>G	NP_001008844.1:n.3582+353C>G
NM_001319034.1:c.3935C>G	NP_001305963.1:p.Ser1312Cys
NM_004415.3:c.3935C>G	NP_004406.2:p.Ser1312Cys
NM_004415.4:c.3935C>G MANE Select	NP_004406.2:p.Ser1312Cys
NM_001008844.3:c.3582+353C>G	NP_001008844.1:n.3582+353C>G
NM_001319034.2:c.3935C>G	NP_001305963.1:p.Ser1312Cys