Canonical Allele Identifier: CA448715641

Gene: DSP

Linked Data

• ClinVar Variation Id: 1749996
• ClinVar RCV Id: RCV002353263 ; RCV003096888
• MyVariant Identifiers: chr6:g.7583333A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583100A>G , CM000668.2:g.7583100A>G	GRCh38
NC_000006.11:g.7583333A>G , CM000668.1:g.7583333A>G	GRCh37
NC_000006.10:g.7528332A>G	NCBI36
NG_008803.1:g.46464A>G , LRG_423:g.46464A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4509A>G	ENSP00000518230.1:p.Pro1503=
ENST00000379802.8:c.5838A>G MANE Select	ENSP00000369129.3:p.Pro1946=
ENST00000379802.7:c.5838A>G	ENSP00000369129.3:p.Pro1946=
ENST00000418664.2:c.4041A>G	ENSP00000396591.2:p.Pro1347=
NM_001008844.1:c.4041A>G	NP_001008844.1:p.Pro1347=
NM_004415.2:c.5838A>G , LRG_423t1:c.5838A>G	NP_004406.2:p.Pro1946=
XM_011514323.1:c.4509A>G	XP_011512625.1:p.Pro1503=
NM_001008844.2:c.4041A>G	NP_001008844.1:p.Pro1347=
NM_001319034.1:c.4509A>G	NP_001305963.1:p.Pro1503=
NM_004415.3:c.5838A>G	NP_004406.2:p.Pro1946=
NM_004415.4:c.5838A>G MANE Select	NP_004406.2:p.Pro1946=
NM_001008844.3:c.4041A>G	NP_001008844.1:p.Pro1347=
NM_001319034.2:c.4509A>G	NP_001305963.1:p.Pro1503=