Canonical Allele Identifier: CA007494

Gene: DSP

Linked Data

• ClinVar Variation Id: 199910
• ClinVar RCV Id: RCV000181350
• dbSNP Id: rs794728134
• MyVariant Identifiers: chr6:g.7585852A>T (hg19) ; chr6:g.7585619A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585619A>T , CM000668.2:g.7585619A>T	GRCh38
NC_000006.11:g.7585852A>T , CM000668.1:g.7585852A>T	GRCh37
NC_000006.10:g.7530851A>T	NCBI36
NG_008803.1:g.48983A>T , LRG_423:g.48983A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.7028A>T	ENSP00000518230.1:p.Lys2343Met
ENST00000379802.8:c.8357A>T MANE Select	ENSP00000369129.3:p.Lys2786Met
ENST00000379802.7:c.8357A>T	ENSP00000369129.3:p.Lys2786Met
ENST00000418664.2:c.6560A>T	ENSP00000396591.2:p.Lys2187Met
NM_001008844.1:c.6560A>T	NP_001008844.1:p.Lys2187Met
NM_004415.2:c.8357A>T , LRG_423t1:c.8357A>T	NP_004406.2:p.Lys2786Met
XM_011514323.1:c.7028A>T	XP_011512625.1:p.Lys2343Met
NM_001008844.2:c.6560A>T	NP_001008844.1:p.Lys2187Met
NM_001319034.1:c.7028A>T	NP_001305963.1:p.Lys2343Met
NM_004415.3:c.8357A>T	NP_004406.2:p.Lys2786Met
NM_004415.4:c.8357A>T MANE Select	NP_004406.2:p.Lys2786Met
NM_001008844.3:c.6560A>T	NP_001008844.1:p.Lys2187Met
NM_001319034.2:c.7028A>T	NP_001305963.1:p.Lys2343Met