Canonical Allele Identifier: CA052317

Gene: DSP

Linked Data

• ClinVar Variation Id: 405231
• ClinVar RCV Id: RCV000457175 ; RCV001184260 ; RCV004022560 ; RCV004000642
• dbSNP Id: rs753011095
• ExAC: 6:7585928 G / A
• gnomAD v2: 6-7585928-G-A
• gnomAD v3: 6-7585695-G-A
• gnomAD v4: 6-7585695-G-A
• MyVariant Identifiers: chr6:g.7585928G>A (hg19) ; chr6:g.7585695G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585695G>A , CM000668.2:g.7585695G>A	GRCh38
NC_000006.11:g.7585928G>A , CM000668.1:g.7585928G>A	GRCh37
NC_000006.10:g.7530927G>A	NCBI36
NG_008803.1:g.49059G>A , LRG_423:g.49059G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.7104G>A	ENSP00000518230.1:p.Lys2368=
ENST00000379802.8:c.8433G>A MANE Select	ENSP00000369129.3:p.Lys2811=
ENST00000379802.7:c.8433G>A	ENSP00000369129.3:p.Lys2811=
ENST00000418664.2:c.6636G>A	ENSP00000396591.2:p.Lys2212=
NM_001008844.1:c.6636G>A	NP_001008844.1:p.Lys2212=
NM_004415.2:c.8433G>A , LRG_423t1:c.8433G>A	NP_004406.2:p.Lys2811=
XM_011514323.1:c.7104G>A	XP_011512625.1:p.Lys2368=
NM_001008844.2:c.6636G>A	NP_001008844.1:p.Lys2212=
NM_001319034.1:c.7104G>A	NP_001305963.1:p.Lys2368=
NM_004415.3:c.8433G>A	NP_004406.2:p.Lys2811=
NM_004415.4:c.8433G>A MANE Select	NP_004406.2:p.Lys2811=
NM_001008844.3:c.6636G>A	NP_001008844.1:p.Lys2212=
NM_001319034.2:c.7104G>A	NP_001305963.1:p.Lys2368=