Canonical Allele Identifier: CA006758

Gene: DSP

Linked Data

• ClinVar Variation Id: 199899
• ClinVar RCV Id: RCV000181338 ; RCV000617463 ; RCV001179621 ; RCV003996658 ; RCV001343592
• dbSNP Id: rs142927608
• ExAC: 6:7583683 G / A
• gnomAD v2: 6-7583683-G-A
• gnomAD v3: 6-7583450-G-A
• gnomAD v4: 6-7583450-G-A
• MyVariant Identifiers: chr6:g.7583683G>A (hg19) ; chr6:g.7583450G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583450G>A , CM000668.2:g.7583450G>A	GRCh38
NC_000006.11:g.7583683G>A , CM000668.1:g.7583683G>A	GRCh37
NC_000006.10:g.7528682G>A	NCBI36
NG_008803.1:g.46814G>A , LRG_423:g.46814G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4859G>A	ENSP00000518230.1:p.Arg1620Gln
ENST00000379802.8:c.6188G>A MANE Select	ENSP00000369129.3:p.Arg2063Gln
ENST00000379802.7:c.6188G>A	ENSP00000369129.3:p.Arg2063Gln
ENST00000418664.2:c.4391G>A	ENSP00000396591.2:p.Arg1464Gln
NM_001008844.1:c.4391G>A	NP_001008844.1:p.Arg1464Gln
NM_004415.2:c.6188G>A , LRG_423t1:c.6188G>A	NP_004406.2:p.Arg2063Gln
XM_011514323.1:c.4859G>A	XP_011512625.1:p.Arg1620Gln
NM_001008844.2:c.4391G>A	NP_001008844.1:p.Arg1464Gln
NM_001319034.1:c.4859G>A	NP_001305963.1:p.Arg1620Gln
NM_004415.3:c.6188G>A	NP_004406.2:p.Arg2063Gln
NM_004415.4:c.6188G>A MANE Select	NP_004406.2:p.Arg2063Gln
NM_001008844.3:c.4391G>A	NP_001008844.1:p.Arg1464Gln
NM_001319034.2:c.4859G>A	NP_001305963.1:p.Arg1620Gln