Canonical Allele Identifier: CA050801

Gene: DSP

Linked Data

• ClinVar Variation Id: 1904344
• ClinVar RCV Id: RCV002577631
• dbSNP Id: rs766022259
• ExAC: 6:7565581 C / A
• gnomAD v2: 6-7565581-C-A
• gnomAD v4: 6-7565348-C-A
• MyVariant Identifiers: chr6:g.7565581C>A (hg19) ; chr6:g.7565348C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7565348C>A , CM000668.2:g.7565348C>A	GRCh38
NC_000006.11:g.7565581C>A , CM000668.1:g.7565581C>A	GRCh37
NC_000006.10:g.7510580C>A	NCBI36
NG_008803.1:g.28712C>A , LRG_423:g.28712C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.778-11C>A	ENSP00000518230.1:n.778-11C>A
ENST00000682228.1:n.91C>A
ENST00000379802.8:c.778-11C>A MANE Select	ENSP00000369129.3:n.778-11C>A
ENST00000379802.7:c.778-11C>A	ENSP00000369129.3:n.778-11C>A
ENST00000418664.2:c.778-11C>A	ENSP00000396591.2:n.778-11C>A
ENST00000506617.1:n.296-11C>A
NM_001008844.1:c.778-11C>A	NP_001008844.1:n.778-11C>A
NM_004415.2:c.778-11C>A , LRG_423t1:c.778-11C>A	NP_004406.2:n.778-11C>A
XM_011514323.1:c.778-11C>A	XP_011512625.1:n.778-11C>A
NM_001008844.2:c.778-11C>A	NP_001008844.1:n.778-11C>A
NM_001319034.1:c.778-11C>A	NP_001305963.1:n.778-11C>A
NM_004415.3:c.778-11C>A	NP_004406.2:n.778-11C>A
NM_004415.4:c.778-11C>A MANE Select	NP_004406.2:n.778-11C>A
NM_001008844.3:c.778-11C>A	NP_001008844.1:n.778-11C>A
NM_001319034.2:c.778-11C>A	NP_001305963.1:n.778-11C>A