Canonical Allele Identifier: CA362684882

Gene: DSP

Linked Data

• ClinVar Variation Id: 1735007
• ClinVar RCV Id: RCV002355151
• dbSNP Id: rs121912997
• MyVariant Identifiers: chr6:g.7580222C>G (hg19) ; chr6:g.7579989C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579989C>G , CM000668.2:g.7579989C>G	GRCh38
NC_000006.11:g.7580222C>G , CM000668.1:g.7580222C>G	GRCh37
NC_000006.10:g.7525221C>G	NCBI36
NG_008803.1:g.43353C>G , LRG_423:g.43353C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.3799C>G	ENSP00000518230.1:p.Arg1267Gly
ENST00000379802.8:c.3799C>G MANE Select	ENSP00000369129.3:p.Arg1267Gly
ENST00000379802.7:c.3799C>G	ENSP00000369129.3:p.Arg1267Gly
ENST00000418664.2:c.3582+217C>G	ENSP00000396591.2:n.3582+217C>G
NM_001008844.1:c.3582+217C>G	NP_001008844.1:n.3582+217C>G
NM_004415.2:c.3799C>G , LRG_423t1:c.3799C>G	NP_004406.2:p.Arg1267Gly
XM_011514323.1:c.3799C>G	XP_011512625.1:p.Arg1267Gly
NM_001008844.2:c.3582+217C>G	NP_001008844.1:n.3582+217C>G
NM_001319034.1:c.3799C>G	NP_001305963.1:p.Arg1267Gly
NM_004415.3:c.3799C>G	NP_004406.2:p.Arg1267Gly
NM_004415.4:c.3799C>G MANE Select	NP_004406.2:p.Arg1267Gly
NM_001008844.3:c.3582+217C>G	NP_001008844.1:n.3582+217C>G
NM_001319034.2:c.3799C>G	NP_001305963.1:p.Arg1267Gly