Canonical Allele Identifier: CA10587633

Gene: DSP

Linked Data

• ClinVar Variation Id: 264512
• ClinVar RCV Id: RCV000248265 ; RCV001229897 ; RCV002265716
• dbSNP Id: rs886039178
• gnomAD v4: 6-7579385-C-G
• MyVariant Identifiers: chr6:g.7579618C>G (hg19) ; chr6:g.7579385C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579385C>G , CM000668.2:g.7579385C>G	GRCh38
NC_000006.11:g.7579618C>G , CM000668.1:g.7579618C>G	GRCh37
NC_000006.10:g.7524617C>G	NCBI36
NG_008803.1:g.42749C>G , LRG_423:g.42749C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3195C>G	ENSP00000518230.1:p.Tyr1065Ter
ENST00000379802.8:c.3195C>G MANE Select	ENSP00000369129.3:p.Tyr1065Ter
ENST00000379802.7:c.3195C>G	ENSP00000369129.3:p.Tyr1065Ter
ENST00000418664.2:c.3195C>G	ENSP00000396591.2:p.Tyr1065Ter
NM_001008844.1:c.3195C>G	NP_001008844.1:p.Tyr1065Ter
NM_004415.2:c.3195C>G , LRG_423t1:c.3195C>G	NP_004406.2:p.Tyr1065Ter
XM_011514323.1:c.3195C>G	XP_011512625.1:p.Tyr1065Ter
NM_001008844.2:c.3195C>G	NP_001008844.1:p.Tyr1065Ter
NM_001319034.1:c.3195C>G	NP_001305963.1:p.Tyr1065Ter
NM_004415.3:c.3195C>G	NP_004406.2:p.Tyr1065Ter
NM_004415.4:c.3195C>G MANE Select	NP_004406.2:p.Tyr1065Ter
NM_001008844.3:c.3195C>G	NP_001008844.1:p.Tyr1065Ter
NM_001319034.2:c.3195C>G	NP_001305963.1:p.Tyr1065Ter