Canonical Allele Identifier: CA448716788

Gene: DSP

Linked Data

• ClinVar Variation Id: 1760898
• ClinVar RCV Id: RCV002412211
• dbSNP Id: rs1468682231
• gnomAD v2: 6-7585346-C-T
• gnomAD v4: 6-7585113-C-T
• MyVariant Identifiers: chr6:g.7585346C>T (hg19) ; chr6:g.7585113C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585113C>T , CM000668.2:g.7585113C>T	GRCh38
NC_000006.11:g.7585346C>T , CM000668.1:g.7585346C>T	GRCh37
NC_000006.10:g.7530345C>T	NCBI36
NG_008803.1:g.48477C>T , LRG_423:g.48477C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6522C>T	ENSP00000518230.1:p.Ser2174=
ENST00000379802.8:c.7851C>T MANE Select	ENSP00000369129.3:p.Ser2617=
ENST00000379802.7:c.7851C>T	ENSP00000369129.3:p.Ser2617=
ENST00000418664.2:c.6054C>T	ENSP00000396591.2:p.Ser2018=
NM_001008844.1:c.6054C>T	NP_001008844.1:p.Ser2018=
NM_004415.2:c.7851C>T , LRG_423t1:c.7851C>T	NP_004406.2:p.Ser2617=
XM_011514323.1:c.6522C>T	XP_011512625.1:p.Ser2174=
NM_001008844.2:c.6054C>T	NP_001008844.1:p.Ser2018=
NM_001319034.1:c.6522C>T	NP_001305963.1:p.Ser2174=
NM_004415.3:c.7851C>T	NP_004406.2:p.Ser2617=
NM_004415.4:c.7851C>T MANE Select	NP_004406.2:p.Ser2617=
NM_001008844.3:c.6054C>T	NP_001008844.1:p.Ser2018=
NM_001319034.2:c.6522C>T	NP_001305963.1:p.Ser2174=