Canonical Allele Identifier: CA052088

Gene: DSP

Linked Data

• ClinVar Variation Id: 2775382
• ClinVar RCV Id: RCV003533790 ; RCV003779371 ; RCV004011644
• dbSNP Id: rs755270593
• ExAC: 6:7585838 A / T
• gnomAD v2: 6-7585838-A-T
• gnomAD v3: 6-7585605-A-T
• gnomAD v4: 6-7585605-A-T
• MyVariant Identifiers: chr6:g.7585838A>T (hg19) ; chr6:g.7585605A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585605A>T , CM000668.2:g.7585605A>T	GRCh38
NC_000006.11:g.7585838A>T , CM000668.1:g.7585838A>T	GRCh37
NC_000006.10:g.7530837A>T	NCBI36
NG_008803.1:g.48969A>T , LRG_423:g.48969A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.7014A>T	ENSP00000518230.1:p.Leu2338Phe
ENST00000379802.8:c.8343A>T MANE Select	ENSP00000369129.3:p.Leu2781Phe
ENST00000379802.7:c.8343A>T	ENSP00000369129.3:p.Leu2781Phe
ENST00000418664.2:c.6546A>T	ENSP00000396591.2:p.Leu2182Phe
NM_001008844.1:c.6546A>T	NP_001008844.1:p.Leu2182Phe
NM_004415.2:c.8343A>T , LRG_423t1:c.8343A>T	NP_004406.2:p.Leu2781Phe
XM_011514323.1:c.7014A>T	XP_011512625.1:p.Leu2338Phe
NM_001008844.2:c.6546A>T	NP_001008844.1:p.Leu2182Phe
NM_001319034.1:c.7014A>T	NP_001305963.1:p.Leu2338Phe
NM_004415.3:c.8343A>T	NP_004406.2:p.Leu2781Phe
NM_004415.4:c.8343A>T MANE Select	NP_004406.2:p.Leu2781Phe
NM_001008844.3:c.6546A>T	NP_001008844.1:p.Leu2182Phe
NM_001319034.2:c.7014A>T	NP_001305963.1:p.Leu2338Phe