Canonical Allele Identifier: CA448521734

Gene: DSP

Linked Data

• ClinVar Variation Id: 2567524
• ClinVar RCV Id: RCV003278548
• MyVariant Identifiers: chr6:g.7568690T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7568457T>A , CM000668.2:g.7568457T>A	GRCh38
NC_000006.11:g.7568690T>A , CM000668.1:g.7568690T>A	GRCh37
NC_000006.10:g.7513689T>A	NCBI36
NG_008803.1:g.31821T>A , LRG_423:g.31821T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.1287T>A	ENSP00000518230.1:p.Leu429=
ENST00000682228.1:n.1472T>A
ENST00000379802.8:c.1287T>A MANE Select	ENSP00000369129.3:p.Leu429=
ENST00000379802.7:c.1287T>A	ENSP00000369129.3:p.Leu429=
ENST00000418664.2:c.1287T>A	ENSP00000396591.2:p.Leu429=
NM_001008844.1:c.1287T>A	NP_001008844.1:p.Leu429=
NM_004415.2:c.1287T>A , LRG_423t1:c.1287T>A	NP_004406.2:p.Leu429=
XM_011514323.1:c.1287T>A	XP_011512625.1:p.Leu429=
NM_001008844.2:c.1287T>A	NP_001008844.1:p.Leu429=
NM_001319034.1:c.1287T>A	NP_001305963.1:p.Leu429=
NM_004415.3:c.1287T>A	NP_004406.2:p.Leu429=
NM_004415.4:c.1287T>A MANE Select	NP_004406.2:p.Leu429=
NM_001008844.3:c.1287T>A	NP_001008844.1:p.Leu429=
NM_001319034.2:c.1287T>A	NP_001305963.1:p.Leu429=