Canonical Allele Identifier: CA046842

Gene: DSP

Linked Data

• ClinVar Variation Id: 3069319
• ClinVar RCV Id: RCV004007863
• dbSNP Id: rs765794044
• ExAC: 6:7583580 T / A
• gnomAD v2: 6-7583580-T-A
• gnomAD v4: 6-7583347-T-A
• MyVariant Identifiers: chr6:g.7583580T>A (hg19) ; chr6:g.7583347T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583347T>A , CM000668.2:g.7583347T>A	GRCh38
NC_000006.11:g.7583580T>A , CM000668.1:g.7583580T>A	GRCh37
NC_000006.10:g.7528579T>A	NCBI36
NG_008803.1:g.46711T>A , LRG_423:g.46711T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4756T>A	ENSP00000518230.1:p.Tyr1586Asn
ENST00000379802.8:c.6085T>A MANE Select	ENSP00000369129.3:p.Tyr2029Asn
ENST00000379802.7:c.6085T>A	ENSP00000369129.3:p.Tyr2029Asn
ENST00000418664.2:c.4288T>A	ENSP00000396591.2:p.Tyr1430Asn
NM_001008844.1:c.4288T>A	NP_001008844.1:p.Tyr1430Asn
NM_004415.2:c.6085T>A , LRG_423t1:c.6085T>A	NP_004406.2:p.Tyr2029Asn
XM_011514323.1:c.4756T>A	XP_011512625.1:p.Tyr1586Asn
NM_001008844.2:c.4288T>A	NP_001008844.1:p.Tyr1430Asn
NM_001319034.1:c.4756T>A	NP_001305963.1:p.Tyr1586Asn
NM_004415.3:c.6085T>A	NP_004406.2:p.Tyr2029Asn
NM_004415.4:c.6085T>A MANE Select	NP_004406.2:p.Tyr2029Asn
NM_001008844.3:c.4288T>A	NP_001008844.1:p.Tyr1430Asn
NM_001319034.2:c.4756T>A	NP_001305963.1:p.Tyr1586Asn