Canonical Allele Identifier: CA362684754

Gene: DSP

Linked Data

• ClinVar Variation Id: 1075207
• ClinVar RCV Id: RCV001388733
• dbSNP Id: rs1413961070
• gnomAD v2: 6-7580162-C-T
• gnomAD v3: 6-7579929-C-T
• gnomAD v4: 6-7579929-C-T
• COSMIC: COSM3629765
• MyVariant Identifiers: chr6:g.7580162C>T (hg19) ; chr6:g.7579929C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579929C>T , CM000668.2:g.7579929C>T	GRCh38
NC_000006.11:g.7580162C>T , CM000668.1:g.7580162C>T	GRCh37
NC_000006.10:g.7525161C>T	NCBI36
NG_008803.1:g.43293C>T , LRG_423:g.43293C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.3739C>T	ENSP00000518230.1:p.Arg1247Ter
ENST00000379802.8:c.3739C>T MANE Select	ENSP00000369129.3:p.Arg1247Ter
ENST00000379802.7:c.3739C>T	ENSP00000369129.3:p.Arg1247Ter
ENST00000418664.2:c.3582+157C>T	ENSP00000396591.2:n.3582+157C>T
NM_001008844.1:c.3582+157C>T	NP_001008844.1:n.3582+157C>T
NM_004415.2:c.3739C>T , LRG_423t1:c.3739C>T	NP_004406.2:p.Arg1247Ter
XM_011514323.1:c.3739C>T	XP_011512625.1:p.Arg1247Ter
NM_001008844.2:c.3582+157C>T	NP_001008844.1:n.3582+157C>T
NM_001319034.1:c.3739C>T	NP_001305963.1:p.Arg1247Ter
NM_004415.3:c.3739C>T	NP_004406.2:p.Arg1247Ter
NM_004415.4:c.3739C>T MANE Select	NP_004406.2:p.Arg1247Ter
NM_001008844.3:c.3582+157C>T	NP_001008844.1:n.3582+157C>T
NM_001319034.2:c.3739C>T	NP_001305963.1:p.Arg1247Ter