Canonical Allele Identifier: CA051180

Gene: DSP

Linked Data

• ClinVar Variation Id: 382845
• ClinVar RCV Id: RCV000440454 ; RCV001191858 ; RCV002521627 ; RCV003278801 ; RCV004000384
• dbSNP Id: rs773906008
• ExAC: 6:7585418 C / T
• gnomAD v2: 6-7585418-C-T
• gnomAD v3: 6-7585185-C-T
• gnomAD v4: 6-7585185-C-T
• COSMIC: COSM1081694
• MyVariant Identifiers: chr6:g.7585418C>T (hg19) ; chr6:g.7585185C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585185C>T , CM000668.2:g.7585185C>T	GRCh38
NC_000006.11:g.7585418C>T , CM000668.1:g.7585418C>T	GRCh37
NC_000006.10:g.7530417C>T	NCBI36
NG_008803.1:g.48549C>T , LRG_423:g.48549C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6594C>T	ENSP00000518230.1:p.Ile2198=
ENST00000379802.8:c.7923C>T MANE Select	ENSP00000369129.3:p.Ile2641=
ENST00000379802.7:c.7923C>T	ENSP00000369129.3:p.Ile2641=
ENST00000418664.2:c.6126C>T	ENSP00000396591.2:p.Ile2042=
NM_001008844.1:c.6126C>T	NP_001008844.1:p.Ile2042=
NM_004415.2:c.7923C>T , LRG_423t1:c.7923C>T	NP_004406.2:p.Ile2641=
XM_011514323.1:c.6594C>T	XP_011512625.1:p.Ile2198=
NM_001008844.2:c.6126C>T	NP_001008844.1:p.Ile2042=
NM_001319034.1:c.6594C>T	NP_001305963.1:p.Ile2198=
NM_004415.3:c.7923C>T	NP_004406.2:p.Ile2641=
NM_004415.4:c.7923C>T MANE Select	NP_004406.2:p.Ile2641=
NM_001008844.3:c.6126C>T	NP_001008844.1:p.Ile2042=
NM_001319034.2:c.6594C>T	NP_001305963.1:p.Ile2198=