Canonical Allele Identifier: CA047094

Gene: DSP

Linked Data

• ClinVar Variation Id: 862390
• ClinVar RCV Id: RCV001069098 ; RCV001182055
• dbSNP Id: rs751050235
• ExAC: 6:7583718 C / T
• gnomAD v2: 6-7583718-C-T
• gnomAD v3: 6-7583485-C-T
• gnomAD v4: 6-7583485-C-T
• COSMIC: COSM3875493
• MyVariant Identifiers: chr6:g.7583718C>T (hg19) ; chr6:g.7583485C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583485C>T , CM000668.2:g.7583485C>T	GRCh38
NC_000006.11:g.7583718C>T , CM000668.1:g.7583718C>T	GRCh37
NC_000006.10:g.7528717C>T	NCBI36
NG_008803.1:g.46849C>T , LRG_423:g.46849C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.4894C>T	ENSP00000518230.1:p.Arg1632Trp
ENST00000379802.8:c.6223C>T MANE Select	ENSP00000369129.3:p.Arg2075Trp
ENST00000379802.7:c.6223C>T	ENSP00000369129.3:p.Arg2075Trp
ENST00000418664.2:c.4426C>T	ENSP00000396591.2:p.Arg1476Trp
NM_001008844.1:c.4426C>T	NP_001008844.1:p.Arg1476Trp
NM_004415.2:c.6223C>T , LRG_423t1:c.6223C>T	NP_004406.2:p.Arg2075Trp
XM_011514323.1:c.4894C>T	XP_011512625.1:p.Arg1632Trp
NM_001008844.2:c.4426C>T	NP_001008844.1:p.Arg1476Trp
NM_001319034.1:c.4894C>T	NP_001305963.1:p.Arg1632Trp
NM_004415.3:c.6223C>T	NP_004406.2:p.Arg2075Trp
NM_004415.4:c.6223C>T MANE Select	NP_004406.2:p.Arg2075Trp
NM_001008844.3:c.4426C>T	NP_001008844.1:p.Arg1476Trp
NM_001319034.2:c.4894C>T	NP_001305963.1:p.Arg1632Trp