Canonical Allele Identifier: CA448715717

Gene: DSP

Linked Data

• gnomAD v4: 6-7583343-A-G
• COSMIC: COSM4903391
• MyVariant Identifiers: chr6:g.7583576A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583343A>G , CM000668.2:g.7583343A>G	GRCh38
NC_000006.11:g.7583576A>G , CM000668.1:g.7583576A>G	GRCh37
NC_000006.10:g.7528575A>G	NCBI36
NG_008803.1:g.46707A>G , LRG_423:g.46707A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4752A>G	ENSP00000518230.1:p.Glu1584=
ENST00000379802.8:c.6081A>G MANE Select	ENSP00000369129.3:p.Glu2027=
ENST00000379802.7:c.6081A>G	ENSP00000369129.3:p.Glu2027=
ENST00000418664.2:c.4284A>G	ENSP00000396591.2:p.Glu1428=
NM_001008844.1:c.4284A>G	NP_001008844.1:p.Glu1428=
NM_004415.2:c.6081A>G , LRG_423t1:c.6081A>G	NP_004406.2:p.Glu2027=
XM_011514323.1:c.4752A>G	XP_011512625.1:p.Glu1584=
NM_001008844.2:c.4284A>G	NP_001008844.1:p.Glu1428=
NM_001319034.1:c.4752A>G	NP_001305963.1:p.Glu1584=
NM_004415.3:c.6081A>G	NP_004406.2:p.Glu2027=
NM_004415.4:c.6081A>G MANE Select	NP_004406.2:p.Glu2027=
NM_001008844.3:c.4284A>G	NP_001008844.1:p.Glu1428=
NM_001319034.2:c.4752A>G	NP_001305963.1:p.Glu1584=