Canonical Allele Identifier: CA133968942

Gene: DSP

Linked Data

• ClinVar Variation Id: 1061650
• ClinVar RCV Id: RCV001371271 ; RCV002357266 ; RCV003532967
• dbSNP Id: rs768166626
• gnomAD v3: 6-7580054-G-T
• gnomAD v4: 6-7580054-G-T
• MyVariant Identifiers: chr6:g.7580287G>T (hg19) ; chr6:g.7580054G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7580054G>T , CM000668.2:g.7580054G>T	GRCh38
NC_000006.11:g.7580287G>T , CM000668.1:g.7580287G>T	GRCh37
NC_000006.10:g.7525286G>T	NCBI36
NG_008803.1:g.43418G>T , LRG_423:g.43418G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3864G>T	ENSP00000518230.1:p.Lys1288Asn
ENST00000379802.8:c.3864G>T MANE Select	ENSP00000369129.3:p.Lys1288Asn
ENST00000379802.7:c.3864G>T	ENSP00000369129.3:p.Lys1288Asn
ENST00000418664.2:c.3582+282G>T	ENSP00000396591.2:n.3582+282G>T
NM_001008844.1:c.3582+282G>T	NP_001008844.1:n.3582+282G>T
NM_004415.2:c.3864G>T , LRG_423t1:c.3864G>T	NP_004406.2:p.Lys1288Asn
XM_011514323.1:c.3864G>T	XP_011512625.1:p.Lys1288Asn
NM_001008844.2:c.3582+282G>T	NP_001008844.1:n.3582+282G>T
NM_001319034.1:c.3864G>T	NP_001305963.1:p.Lys1288Asn
NM_004415.3:c.3864G>T	NP_004406.2:p.Lys1288Asn
NM_004415.4:c.3864G>T MANE Select	NP_004406.2:p.Lys1288Asn
NM_001008844.3:c.3582+282G>T	NP_001008844.1:n.3582+282G>T
NM_001319034.2:c.3864G>T	NP_001305963.1:p.Lys1288Asn