Canonical Allele Identifier: CA448715734

Gene: DSP

Linked Data

• ClinVar Variation Id: 2169784
• ClinVar RCV Id: RCV003095337
• MyVariant Identifiers: chr6:g.7583585T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583352T>A , CM000668.2:g.7583352T>A	GRCh38
NC_000006.11:g.7583585T>A , CM000668.1:g.7583585T>A	GRCh37
NC_000006.10:g.7528584T>A	NCBI36
NG_008803.1:g.46716T>A , LRG_423:g.46716T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.4761T>A	ENSP00000518230.1:p.Ser1587=
ENST00000379802.8:c.6090T>A MANE Select	ENSP00000369129.3:p.Ser2030=
ENST00000379802.7:c.6090T>A	ENSP00000369129.3:p.Ser2030=
ENST00000418664.2:c.4293T>A	ENSP00000396591.2:p.Ser1431=
NM_001008844.1:c.4293T>A	NP_001008844.1:p.Ser1431=
NM_004415.2:c.6090T>A , LRG_423t1:c.6090T>A	NP_004406.2:p.Ser2030=
XM_011514323.1:c.4761T>A	XP_011512625.1:p.Ser1587=
NM_001008844.2:c.4293T>A	NP_001008844.1:p.Ser1431=
NM_001319034.1:c.4761T>A	NP_001305963.1:p.Ser1587=
NM_004415.3:c.6090T>A	NP_004406.2:p.Ser2030=
NM_004415.4:c.6090T>A MANE Select	NP_004406.2:p.Ser2030=
NM_001008844.3:c.4293T>A	NP_001008844.1:p.Ser1431=
NM_001319034.2:c.4761T>A	NP_001305963.1:p.Ser1587=