Canonical Allele Identifier: CA133977876

Gene: DSP

Linked Data

• ClinVar Variation Id: 922338
• ClinVar RCV Id: RCV001182370 ; RCV001363499 ; RCV004033072
• dbSNP Id: rs867430601
• gnomAD v4: 6-7585633-C-T
• COSMIC: COSM3629849
• MyVariant Identifiers: chr6:g.7585866C>T (hg19) ; chr6:g.7585633C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585633C>T , CM000668.2:g.7585633C>T	GRCh38
NC_000006.11:g.7585866C>T , CM000668.1:g.7585866C>T	GRCh37
NC_000006.10:g.7530865C>T	NCBI36
NG_008803.1:g.48997C>T , LRG_423:g.48997C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.7042C>T	ENSP00000518230.1:p.Arg2348Cys
ENST00000379802.8:c.8371C>T MANE Select	ENSP00000369129.3:p.Arg2791Cys
ENST00000379802.7:c.8371C>T	ENSP00000369129.3:p.Arg2791Cys
ENST00000418664.2:c.6574C>T	ENSP00000396591.2:p.Arg2192Cys
NM_001008844.1:c.6574C>T	NP_001008844.1:p.Arg2192Cys
NM_004415.2:c.8371C>T , LRG_423t1:c.8371C>T	NP_004406.2:p.Arg2791Cys
XM_011514323.1:c.7042C>T	XP_011512625.1:p.Arg2348Cys
NM_001008844.2:c.6574C>T	NP_001008844.1:p.Arg2192Cys
NM_001319034.1:c.7042C>T	NP_001305963.1:p.Arg2348Cys
NM_004415.3:c.8371C>T	NP_004406.2:p.Arg2791Cys
NM_004415.4:c.8371C>T MANE Select	NP_004406.2:p.Arg2791Cys
NM_001008844.3:c.6574C>T	NP_001008844.1:p.Arg2192Cys
NM_001319034.2:c.7042C>T	NP_001305963.1:p.Arg2348Cys