Canonical Allele Identifier: CA362689262

Gene: DSP

Linked Data

• ClinVar Variation Id: 1171109
• ClinVar RCV Id: RCV001524023
• dbSNP Id: rs2113698577
• MyVariant Identifiers: chr6:g.7583213C>G (hg19) ; chr6:g.7582980C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7582980C>G , CM000668.2:g.7582980C>G	GRCh38
NC_000006.11:g.7583213C>G , CM000668.1:g.7583213C>G	GRCh37
NC_000006.10:g.7528212C>G	NCBI36
NG_008803.1:g.46344C>G , LRG_423:g.46344C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4389C>G	ENSP00000518230.1:p.Ile1463Met
ENST00000379802.8:c.5718C>G MANE Select	ENSP00000369129.3:p.Ile1906Met
ENST00000379802.7:c.5718C>G	ENSP00000369129.3:p.Ile1906Met
ENST00000418664.2:c.3921C>G	ENSP00000396591.2:p.Ile1307Met
NM_001008844.1:c.3921C>G	NP_001008844.1:p.Ile1307Met
NM_004415.2:c.5718C>G , LRG_423t1:c.5718C>G	NP_004406.2:p.Ile1906Met
XM_011514323.1:c.4389C>G	XP_011512625.1:p.Ile1463Met
NM_001008844.2:c.3921C>G	NP_001008844.1:p.Ile1307Met
NM_001319034.1:c.4389C>G	NP_001305963.1:p.Ile1463Met
NM_004415.3:c.5718C>G	NP_004406.2:p.Ile1906Met
NM_004415.4:c.5718C>G MANE Select	NP_004406.2:p.Ile1906Met
NM_001008844.3:c.3921C>G	NP_001008844.1:p.Ile1307Met
NM_001319034.2:c.4389C>G	NP_001305963.1:p.Ile1463Met