Canonical Allele Identifier: CA362684869

Gene: DSP

Linked Data

• ClinVar Variation Id: 523474
• ClinVar RCV Id: RCV000626865 ; RCV001389691 ; RCV004002759
• dbSNP Id: rs1554108172
• MyVariant Identifiers: chr6:g.7580216G>T (hg19) ; chr6:g.7579983G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579983G>T , CM000668.2:g.7579983G>T	GRCh38
NC_000006.11:g.7580216G>T , CM000668.1:g.7580216G>T	GRCh37
NC_000006.10:g.7525215G>T	NCBI36
NG_008803.1:g.43347G>T , LRG_423:g.43347G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3793G>T	ENSP00000518230.1:p.Glu1265Ter
ENST00000379802.8:c.3793G>T MANE Select	ENSP00000369129.3:p.Glu1265Ter
ENST00000379802.7:c.3793G>T	ENSP00000369129.3:p.Glu1265Ter
ENST00000418664.2:c.3582+211G>T	ENSP00000396591.2:n.3582+211G>T
NM_001008844.1:c.3582+211G>T	NP_001008844.1:n.3582+211G>T
NM_004415.2:c.3793G>T , LRG_423t1:c.3793G>T	NP_004406.2:p.Glu1265Ter
XM_011514323.1:c.3793G>T	XP_011512625.1:p.Glu1265Ter
NM_001008844.2:c.3582+211G>T	NP_001008844.1:n.3582+211G>T
NM_001319034.1:c.3793G>T	NP_001305963.1:p.Glu1265Ter
NM_004415.3:c.3793G>T	NP_004406.2:p.Glu1265Ter
NM_004415.4:c.3793G>T MANE Select	NP_004406.2:p.Glu1265Ter
NM_001008844.3:c.3582+211G>T	NP_001008844.1:n.3582+211G>T
NM_001319034.2:c.3793G>T	NP_001305963.1:p.Glu1265Ter