Canonical Allele Identifier: CA133976392

Gene: DSP

Linked Data

• ClinVar Variation Id: 966818
• ClinVar RCV Id: RCV001241585 ; RCV004004886
• dbSNP Id: rs769601021
• gnomAD v2: 6-7585152-A-G
• gnomAD v4: 6-7584919-A-G
• MyVariant Identifiers: chr6:g.7585152A>G (hg19) ; chr6:g.7584919A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584919A>G , CM000668.2:g.7584919A>G	GRCh38
NC_000006.11:g.7585152A>G , CM000668.1:g.7585152A>G	GRCh37
NC_000006.10:g.7530151A>G	NCBI36
NG_008803.1:g.48283A>G , LRG_423:g.48283A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6328A>G	ENSP00000518230.1:p.Ser2110Gly
ENST00000379802.8:c.7657A>G MANE Select	ENSP00000369129.3:p.Ser2553Gly
ENST00000379802.7:c.7657A>G	ENSP00000369129.3:p.Ser2553Gly
ENST00000418664.2:c.5860A>G	ENSP00000396591.2:p.Ser1954Gly
NM_001008844.1:c.5860A>G	NP_001008844.1:p.Ser1954Gly
NM_004415.2:c.7657A>G , LRG_423t1:c.7657A>G	NP_004406.2:p.Ser2553Gly
XM_011514323.1:c.6328A>G	XP_011512625.1:p.Ser2110Gly
NM_001008844.2:c.5860A>G	NP_001008844.1:p.Ser1954Gly
NM_001319034.1:c.6328A>G	NP_001305963.1:p.Ser2110Gly
NM_004415.3:c.7657A>G	NP_004406.2:p.Ser2553Gly
NM_004415.4:c.7657A>G MANE Select	NP_004406.2:p.Ser2553Gly
NM_001008844.3:c.5860A>G	NP_001008844.1:p.Ser1954Gly
NM_001319034.2:c.6328A>G	NP_001305963.1:p.Ser2110Gly