Canonical Allele Identifier: CA051080

Gene: DSP

Linked Data

• ClinVar Variation Id: 926001
• ClinVar RCV Id: RCV001188284 ; RCV001502010 ; RCV003230643 ; RCV002418638
• dbSNP Id: rs778552693
• ExAC: 6:7585388 C / T
• gnomAD v2: 6-7585388-C-T
• gnomAD v3: 6-7585155-C-T
• gnomAD v4: 6-7585155-C-T
• MyVariant Identifiers: chr6:g.7585388C>T (hg19) ; chr6:g.7585155C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585155C>T , CM000668.2:g.7585155C>T	GRCh38
NC_000006.11:g.7585388C>T , CM000668.1:g.7585388C>T	GRCh37
NC_000006.10:g.7530387C>T	NCBI36
NG_008803.1:g.48519C>T , LRG_423:g.48519C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6564C>T	ENSP00000518230.1:p.Ile2188=
ENST00000379802.8:c.7893C>T MANE Select	ENSP00000369129.3:p.Ile2631=
ENST00000379802.7:c.7893C>T	ENSP00000369129.3:p.Ile2631=
ENST00000418664.2:c.6096C>T	ENSP00000396591.2:p.Ile2032=
NM_001008844.1:c.6096C>T	NP_001008844.1:p.Ile2032=
NM_004415.2:c.7893C>T , LRG_423t1:c.7893C>T	NP_004406.2:p.Ile2631=
XM_011514323.1:c.6564C>T	XP_011512625.1:p.Ile2188=
NM_001008844.2:c.6096C>T	NP_001008844.1:p.Ile2032=
NM_001319034.1:c.6564C>T	NP_001305963.1:p.Ile2188=
NM_004415.3:c.7893C>T	NP_004406.2:p.Ile2631=
NM_004415.4:c.7893C>T MANE Select	NP_004406.2:p.Ile2631=
NM_001008844.3:c.6096C>T	NP_001008844.1:p.Ile2032=
NM_001319034.2:c.6564C>T	NP_001305963.1:p.Ile2188=