Canonical Allele Identifier: CA052797

Gene: DSP

Linked Data

• ClinVar Variation Id: 1060837
• ClinVar RCV Id: RCV001370318 ; RCV002488159
• dbSNP Id: rs148550678
• ExAC: 6:7586061 T / A
• gnomAD v3: 6-7585828-T-A
• gnomAD v4: 6-7585828-T-A
• MyVariant Identifiers: chr6:g.7586061T>A (hg19) ; chr6:g.7585828T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585828T>A , CM000668.2:g.7585828T>A	GRCh38
NC_000006.11:g.7586061T>A , CM000668.1:g.7586061T>A	GRCh37
NC_000006.10:g.7531060T>A	NCBI36
NG_008803.1:g.49192T>A , LRG_423:g.49192T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.7237T>A	ENSP00000518230.1:p.Ser2413Thr
ENST00000379802.8:c.8566T>A MANE Select	ENSP00000369129.3:p.Ser2856Thr
ENST00000379802.7:c.8566T>A	ENSP00000369129.3:p.Ser2856Thr
ENST00000418664.2:c.6769T>A	ENSP00000396591.2:p.Ser2257Thr
NM_001008844.1:c.6769T>A	NP_001008844.1:p.Ser2257Thr
NM_004415.2:c.8566T>A , LRG_423t1:c.8566T>A	NP_004406.2:p.Ser2856Thr
XM_011514323.1:c.7237T>A	XP_011512625.1:p.Ser2413Thr
NM_001008844.2:c.6769T>A	NP_001008844.1:p.Ser2257Thr
NM_001319034.1:c.7237T>A	NP_001305963.1:p.Ser2413Thr
NM_004415.3:c.8566T>A	NP_004406.2:p.Ser2856Thr
NM_004415.4:c.8566T>A MANE Select	NP_004406.2:p.Ser2856Thr
NM_001008844.3:c.6769T>A	NP_001008844.1:p.Ser2257Thr
NM_001319034.2:c.7237T>A	NP_001305963.1:p.Ser2413Thr