Canonical Allele Identifier: CA362689383

Gene: DSP

Linked Data

• ClinVar Variation Id: 1171279
• ClinVar RCV Id: RCV001524240 ; RCV002568059
• dbSNP Id: rs2113698710
• MyVariant Identifiers: chr6:g.7583268C>T (hg19) ; chr6:g.7583035C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583035C>T , CM000668.2:g.7583035C>T	GRCh38
NC_000006.11:g.7583268C>T , CM000668.1:g.7583268C>T	GRCh37
NC_000006.10:g.7528267C>T	NCBI36
NG_008803.1:g.46399C>T , LRG_423:g.46399C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4444C>T	ENSP00000518230.1:p.Gln1482Ter
ENST00000379802.8:c.5773C>T MANE Select	ENSP00000369129.3:p.Gln1925Ter
ENST00000379802.7:c.5773C>T	ENSP00000369129.3:p.Gln1925Ter
ENST00000418664.2:c.3976C>T	ENSP00000396591.2:p.Gln1326Ter
NM_001008844.1:c.3976C>T	NP_001008844.1:p.Gln1326Ter
NM_004415.2:c.5773C>T , LRG_423t1:c.5773C>T	NP_004406.2:p.Gln1925Ter
XM_011514323.1:c.4444C>T	XP_011512625.1:p.Gln1482Ter
NM_001008844.2:c.3976C>T	NP_001008844.1:p.Gln1326Ter
NM_001319034.1:c.4444C>T	NP_001305963.1:p.Gln1482Ter
NM_004415.3:c.5773C>T	NP_004406.2:p.Gln1925Ter
NM_004415.4:c.5773C>T MANE Select	NP_004406.2:p.Gln1925Ter
NM_001008844.3:c.3976C>T	NP_001008844.1:p.Gln1326Ter
NM_001319034.2:c.4444C>T	NP_001305963.1:p.Gln1482Ter