Canonical Allele Identifier: CA448714768

Gene: DSP

Linked Data

• ClinVar Variation Id: 1117270
• ClinVar RCV Id: RCV001445938
• dbSNP Id: rs2113692582
• gnomAD v4: 6-7579952-C-G
• MyVariant Identifiers: chr6:g.7580185C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579952C>G , CM000668.2:g.7579952C>G	GRCh38
NC_000006.11:g.7580185C>G , CM000668.1:g.7580185C>G	GRCh37
NC_000006.10:g.7525184C>G	NCBI36
NG_008803.1:g.43316C>G , LRG_423:g.43316C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3762C>G	ENSP00000518230.1:p.Val1254=
ENST00000379802.8:c.3762C>G MANE Select	ENSP00000369129.3:p.Val1254=
ENST00000379802.7:c.3762C>G	ENSP00000369129.3:p.Val1254=
ENST00000418664.2:c.3582+180C>G	ENSP00000396591.2:n.3582+180C>G
NM_001008844.1:c.3582+180C>G	NP_001008844.1:n.3582+180C>G
NM_004415.2:c.3762C>G , LRG_423t1:c.3762C>G	NP_004406.2:p.Val1254=
XM_011514323.1:c.3762C>G	XP_011512625.1:p.Val1254=
NM_001008844.2:c.3582+180C>G	NP_001008844.1:n.3582+180C>G
NM_001319034.1:c.3762C>G	NP_001305963.1:p.Val1254=
NM_004415.3:c.3762C>G	NP_004406.2:p.Val1254=
NM_004415.4:c.3762C>G MANE Select	NP_004406.2:p.Val1254=
NM_001008844.3:c.3582+180C>G	NP_001008844.1:n.3582+180C>G
NM_001319034.2:c.3762C>G	NP_001305963.1:p.Val1254=