Canonical Allele Identifier: CA362695186

Gene: DSP

Linked Data

• ClinVar Variation Id: 919071
• ClinVar RCV Id: RCV001176997 ; RCV002555467
• dbSNP Id: rs138329459
• gnomAD v4: 6-7585717-A-G
• MyVariant Identifiers: chr6:g.7585950A>G (hg19) ; chr6:g.7585717A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585717A>G , CM000668.2:g.7585717A>G	GRCh38
NC_000006.11:g.7585950A>G , CM000668.1:g.7585950A>G	GRCh37
NC_000006.10:g.7530949A>G	NCBI36
NG_008803.1:g.49081A>G , LRG_423:g.49081A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.7126A>G	ENSP00000518230.1:p.Met2376Val
ENST00000379802.8:c.8455A>G MANE Select	ENSP00000369129.3:p.Met2819Val
ENST00000379802.7:c.8455A>G	ENSP00000369129.3:p.Met2819Val
ENST00000418664.2:c.6658A>G	ENSP00000396591.2:p.Met2220Val
NM_001008844.1:c.6658A>G	NP_001008844.1:p.Met2220Val
NM_004415.2:c.8455A>G , LRG_423t1:c.8455A>G	NP_004406.2:p.Met2819Val
XM_011514323.1:c.7126A>G	XP_011512625.1:p.Met2376Val
NM_001008844.2:c.6658A>G	NP_001008844.1:p.Met2220Val
NM_001319034.1:c.7126A>G	NP_001305963.1:p.Met2376Val
NM_004415.3:c.8455A>G	NP_004406.2:p.Met2819Val
NM_004415.4:c.8455A>G MANE Select	NP_004406.2:p.Met2819Val
NM_001008844.3:c.6658A>G	NP_001008844.1:p.Met2220Val
NM_001319034.2:c.7126A>G	NP_001305963.1:p.Met2376Val