Canonical Allele Identifier: CA046855

Gene: DSP

Linked Data

• ClinVar Variation Id: 971558
• ClinVar RCV Id: RCV001247366 ; RCV001524096
• dbSNP Id: rs753271305
• ExAC: 6:7583581 A / G
• gnomAD v2: 6-7583581-A-G
• gnomAD v4: 6-7583348-A-G
• MyVariant Identifiers: chr6:g.7583581A>G (hg19) ; chr6:g.7583348A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583348A>G , CM000668.2:g.7583348A>G	GRCh38
NC_000006.11:g.7583581A>G , CM000668.1:g.7583581A>G	GRCh37
NC_000006.10:g.7528580A>G	NCBI36
NG_008803.1:g.46712A>G , LRG_423:g.46712A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4757A>G	ENSP00000518230.1:p.Tyr1586Cys
ENST00000379802.8:c.6086A>G MANE Select	ENSP00000369129.3:p.Tyr2029Cys
ENST00000379802.7:c.6086A>G	ENSP00000369129.3:p.Tyr2029Cys
ENST00000418664.2:c.4289A>G	ENSP00000396591.2:p.Tyr1430Cys
NM_001008844.1:c.4289A>G	NP_001008844.1:p.Tyr1430Cys
NM_004415.2:c.6086A>G , LRG_423t1:c.6086A>G	NP_004406.2:p.Tyr2029Cys
XM_011514323.1:c.4757A>G	XP_011512625.1:p.Tyr1586Cys
NM_001008844.2:c.4289A>G	NP_001008844.1:p.Tyr1430Cys
NM_001319034.1:c.4757A>G	NP_001305963.1:p.Tyr1586Cys
NM_004415.3:c.6086A>G	NP_004406.2:p.Tyr2029Cys
NM_004415.4:c.6086A>G MANE Select	NP_004406.2:p.Tyr2029Cys
NM_001008844.3:c.4289A>G	NP_001008844.1:p.Tyr1430Cys
NM_001319034.2:c.4757A>G	NP_001305963.1:p.Tyr1586Cys