Canonical Allele Identifier: CA006621

Gene: DSP

Linked Data

• ClinVar Variation Id: 16843
• ClinVar RCV Id: RCV000018337 ; RCV000578822 ; RCV001048758
• dbSNP Id: rs121912996
• MyVariant Identifiers: chr6:g.7583295C>T (hg19) ; chr6:g.7583062C>T (hg38)
• PubMed: PMID:16175511

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583062C>T , CM000668.2:g.7583062C>T	GRCh38
NC_000006.11:g.7583295C>T , CM000668.1:g.7583295C>T	GRCh37
NC_000006.10:g.7528294C>T	NCBI36
NG_008803.1:g.46426C>T , LRG_423:g.46426C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.4471C>T	ENSP00000518230.1:p.Arg1491Ter
ENST00000379802.8:c.5800C>T MANE Select	ENSP00000369129.3:p.Arg1934Ter
ENST00000379802.7:c.5800C>T	ENSP00000369129.3:p.Arg1934Ter
ENST00000418664.2:c.4003C>T	ENSP00000396591.2:p.Arg1335Ter
NM_001008844.1:c.4003C>T	NP_001008844.1:p.Arg1335Ter
NM_004415.2:c.5800C>T , LRG_423t1:c.5800C>T	NP_004406.2:p.Arg1934Ter
XM_011514323.1:c.4471C>T	XP_011512625.1:p.Arg1491Ter
NM_001008844.2:c.4003C>T	NP_001008844.1:p.Arg1335Ter
NM_001319034.1:c.4471C>T	NP_001305963.1:p.Arg1491Ter
NM_004415.3:c.5800C>T	NP_004406.2:p.Arg1934Ter
NM_004415.4:c.5800C>T MANE Select	NP_004406.2:p.Arg1934Ter
NM_001008844.3:c.4003C>T	NP_001008844.1:p.Arg1335Ter
NM_001319034.2:c.4471C>T	NP_001305963.1:p.Arg1491Ter