Canonical Allele Identifier: CA448521716

Gene: DSP

Linked Data

• ClinVar Variation Id: 1556472
• ClinVar RCV Id: RCV002187932
• dbSNP Id: rs1758928792
• gnomAD v3: 6-7568451-A-G
• gnomAD v4: 6-7568451-A-G
• MyVariant Identifiers: chr6:g.7568684A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7568451A>G , CM000668.2:g.7568451A>G	GRCh38
NC_000006.11:g.7568684A>G , CM000668.1:g.7568684A>G	GRCh37
NC_000006.10:g.7513683A>G	NCBI36
NG_008803.1:g.31815A>G , LRG_423:g.31815A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.1281A>G	ENSP00000518230.1:p.Lys427=
ENST00000682228.1:n.1466A>G
ENST00000379802.8:c.1281A>G MANE Select	ENSP00000369129.3:p.Lys427=
ENST00000379802.7:c.1281A>G	ENSP00000369129.3:p.Lys427=
ENST00000418664.2:c.1281A>G	ENSP00000396591.2:p.Lys427=
NM_001008844.1:c.1281A>G	NP_001008844.1:p.Lys427=
NM_004415.2:c.1281A>G , LRG_423t1:c.1281A>G	NP_004406.2:p.Lys427=
XM_011514323.1:c.1281A>G	XP_011512625.1:p.Lys427=
NM_001008844.2:c.1281A>G	NP_001008844.1:p.Lys427=
NM_001319034.1:c.1281A>G	NP_001305963.1:p.Lys427=
NM_004415.3:c.1281A>G	NP_004406.2:p.Lys427=
NM_004415.4:c.1281A>G MANE Select	NP_004406.2:p.Lys427=
NM_001008844.3:c.1281A>G	NP_001008844.1:p.Lys427=
NM_001319034.2:c.1281A>G	NP_001305963.1:p.Lys427=