Canonical Allele Identifier: CA133977889

Gene: DSP

Linked Data

• ClinVar Variation Id: 1126516
• ClinVar RCV Id: RCV001458576 ; RCV004007071
• dbSNP Id: rs1025921677
• gnomAD v4: 6-7585644-A-G
• MyVariant Identifiers: chr6:g.7585877A>G (hg19) ; chr6:g.7585644A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585644A>G , CM000668.2:g.7585644A>G	GRCh38
NC_000006.11:g.7585877A>G , CM000668.1:g.7585877A>G	GRCh37
NC_000006.10:g.7530876A>G	NCBI36
NG_008803.1:g.49008A>G , LRG_423:g.49008A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.7053A>G	ENSP00000518230.1:p.Val2351=
ENST00000379802.8:c.8382A>G MANE Select	ENSP00000369129.3:p.Val2794=
ENST00000379802.7:c.8382A>G	ENSP00000369129.3:p.Val2794=
ENST00000418664.2:c.6585A>G	ENSP00000396591.2:p.Val2195=
NM_001008844.1:c.6585A>G	NP_001008844.1:p.Val2195=
NM_004415.2:c.8382A>G , LRG_423t1:c.8382A>G	NP_004406.2:p.Val2794=
XM_011514323.1:c.7053A>G	XP_011512625.1:p.Val2351=
NM_001008844.2:c.6585A>G	NP_001008844.1:p.Val2195=
NM_001319034.1:c.7053A>G	NP_001305963.1:p.Val2351=
NM_004415.3:c.8382A>G	NP_004406.2:p.Val2794=
NM_004415.4:c.8382A>G MANE Select	NP_004406.2:p.Val2794=
NM_001008844.3:c.6585A>G	NP_001008844.1:p.Val2195=
NM_001319034.2:c.7053A>G	NP_001305963.1:p.Val2351=