Canonical Allele Identifier: CA006646

Gene: DSP

Linked Data

• ClinVar Variation Id: 199896
• ClinVar RCV Id: RCV000181335 ; RCV000641808 ; RCV001179620 ; RCV002354470
• dbSNP Id: rs368869076
• ExAC: 6:7583376 G / A
• gnomAD v2: 6-7583376-G-A
• gnomAD v3: 6-7583143-G-A
• gnomAD v4: 6-7583143-G-A
• MyVariant Identifiers: chr6:g.7583376G>A (hg19) ; chr6:g.7583143G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583143G>A , CM000668.2:g.7583143G>A	GRCh38
NC_000006.11:g.7583376G>A , CM000668.1:g.7583376G>A	GRCh37
NC_000006.10:g.7528375G>A	NCBI36
NG_008803.1:g.46507G>A , LRG_423:g.46507G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4552G>A	ENSP00000518230.1:p.Val1518Ile
ENST00000379802.8:c.5881G>A MANE Select	ENSP00000369129.3:p.Val1961Ile
ENST00000379802.7:c.5881G>A	ENSP00000369129.3:p.Val1961Ile
ENST00000418664.2:c.4084G>A	ENSP00000396591.2:p.Val1362Ile
NM_001008844.1:c.4084G>A	NP_001008844.1:p.Val1362Ile
NM_004415.2:c.5881G>A , LRG_423t1:c.5881G>A	NP_004406.2:p.Val1961Ile
XM_011514323.1:c.4552G>A	XP_011512625.1:p.Val1518Ile
NM_001008844.2:c.4084G>A	NP_001008844.1:p.Val1362Ile
NM_001319034.1:c.4552G>A	NP_001305963.1:p.Val1518Ile
NM_004415.3:c.5881G>A	NP_004406.2:p.Val1961Ile
NM_004415.4:c.5881G>A MANE Select	NP_004406.2:p.Val1961Ile
NM_001008844.3:c.4084G>A	NP_001008844.1:p.Val1362Ile
NM_001319034.2:c.4552G>A	NP_001305963.1:p.Val1518Ile