Canonical Allele Identifier: CA051144

Gene: DSP

Linked Data

• ClinVar Variation Id: 405230
• ClinVar RCV Id: RCV000461737 ; RCV000786122 ; RCV001524816 ; RCV002480359 ; RCV004000641
• dbSNP Id: rs771553674
• ExAC: 6:7585410 C / T
• gnomAD v2: 6-7585410-C-T
• gnomAD v3: 6-7585177-C-T
• gnomAD v4: 6-7585177-C-T
• COSMIC: COSM329333
• MyVariant Identifiers: chr6:g.7585410C>T (hg19) ; chr6:g.7585177C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585177C>T , CM000668.2:g.7585177C>T	GRCh38
NC_000006.11:g.7585410C>T , CM000668.1:g.7585410C>T	GRCh37
NC_000006.10:g.7530409C>T	NCBI36
NG_008803.1:g.48541C>T , LRG_423:g.48541C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6586C>T	ENSP00000518230.1:p.Arg2196Trp
ENST00000379802.8:c.7915C>T MANE Select	ENSP00000369129.3:p.Arg2639Trp
ENST00000379802.7:c.7915C>T	ENSP00000369129.3:p.Arg2639Trp
ENST00000418664.2:c.6118C>T	ENSP00000396591.2:p.Arg2040Trp
NM_001008844.1:c.6118C>T	NP_001008844.1:p.Arg2040Trp
NM_004415.2:c.7915C>T , LRG_423t1:c.7915C>T	NP_004406.2:p.Arg2639Trp
XM_011514323.1:c.6586C>T	XP_011512625.1:p.Arg2196Trp
NM_001008844.2:c.6118C>T	NP_001008844.1:p.Arg2040Trp
NM_001319034.1:c.6586C>T	NP_001305963.1:p.Arg2196Trp
NM_004415.3:c.7915C>T	NP_004406.2:p.Arg2639Trp
NM_004415.4:c.7915C>T MANE Select	NP_004406.2:p.Arg2639Trp
NM_001008844.3:c.6118C>T	NP_001008844.1:p.Arg2040Trp
NM_001319034.2:c.6586C>T	NP_001305963.1:p.Arg2196Trp