Canonical Allele Identifier: CA133977902

Gene: DSP

Linked Data

• ClinVar Variation Id: 920770
• ClinVar RCV Id: RCV001179725 ; RCV001875948 ; RCV004006597
• dbSNP Id: rs888716643
• gnomAD v4: 6-7585649-A-T
• MyVariant Identifiers: chr6:g.7585882A>T (hg19) ; chr6:g.7585649A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585649A>T , CM000668.2:g.7585649A>T	GRCh38
NC_000006.11:g.7585882A>T , CM000668.1:g.7585882A>T	GRCh37
NC_000006.10:g.7530881A>T	NCBI36
NG_008803.1:g.49013A>T , LRG_423:g.49013A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.7058A>T	ENSP00000518230.1:p.Asp2353Val
ENST00000379802.8:c.8387A>T MANE Select	ENSP00000369129.3:p.Asp2796Val
ENST00000379802.7:c.8387A>T	ENSP00000369129.3:p.Asp2796Val
ENST00000418664.2:c.6590A>T	ENSP00000396591.2:p.Asp2197Val
NM_001008844.1:c.6590A>T	NP_001008844.1:p.Asp2197Val
NM_004415.2:c.8387A>T , LRG_423t1:c.8387A>T	NP_004406.2:p.Asp2796Val
XM_011514323.1:c.7058A>T	XP_011512625.1:p.Asp2353Val
NM_001008844.2:c.6590A>T	NP_001008844.1:p.Asp2197Val
NM_001319034.1:c.7058A>T	NP_001305963.1:p.Asp2353Val
NM_004415.3:c.8387A>T	NP_004406.2:p.Asp2796Val
NM_004415.4:c.8387A>T MANE Select	NP_004406.2:p.Asp2796Val
NM_001008844.3:c.6590A>T	NP_001008844.1:p.Asp2197Val
NM_001319034.2:c.7058A>T	NP_001305963.1:p.Asp2353Val