Canonical Allele Identifier: CA133976820

Gene: DSP

Linked Data

• ClinVar Variation Id: 1761239
• ClinVar RCV Id: RCV002416743
• dbSNP Id: rs773906008
• MyVariant Identifiers: chr6:g.7585418C>A (hg19) ; chr6:g.7585185C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585185C>A , CM000668.2:g.7585185C>A	GRCh38
NC_000006.11:g.7585418C>A , CM000668.1:g.7585418C>A	GRCh37
NC_000006.10:g.7530417C>A	NCBI36
NG_008803.1:g.48549C>A , LRG_423:g.48549C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6594C>A	ENSP00000518230.1:p.Ile2198=
ENST00000379802.8:c.7923C>A MANE Select	ENSP00000369129.3:p.Ile2641=
ENST00000379802.7:c.7923C>A	ENSP00000369129.3:p.Ile2641=
ENST00000418664.2:c.6126C>A	ENSP00000396591.2:p.Ile2042=
NM_001008844.1:c.6126C>A	NP_001008844.1:p.Ile2042=
NM_004415.2:c.7923C>A , LRG_423t1:c.7923C>A	NP_004406.2:p.Ile2641=
XM_011514323.1:c.6594C>A	XP_011512625.1:p.Ile2198=
NM_001008844.2:c.6126C>A	NP_001008844.1:p.Ile2042=
NM_001319034.1:c.6594C>A	NP_001305963.1:p.Ile2198=
NM_004415.3:c.7923C>A	NP_004406.2:p.Ile2641=
NM_004415.4:c.7923C>A MANE Select	NP_004406.2:p.Ile2641=
NM_001008844.3:c.6126C>A	NP_001008844.1:p.Ile2042=
NM_001319034.2:c.6594C>A	NP_001305963.1:p.Ile2198=