Canonical Allele Identifier: CA049278

Gene: DSP

Linked Data

• ClinVar Variation Id: 762657
• ClinVar RCV Id: RCV001415786
• dbSNP Id: rs150574081
• ExAC: 6:7584686 C / T
• gnomAD v2: 6-7584686-C-T
• gnomAD v3: 6-7584453-C-T
• gnomAD v4: 6-7584453-C-T
• MyVariant Identifiers: chr6:g.7584686C>T (hg19) ; chr6:g.7584453C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584453C>T , CM000668.2:g.7584453C>T	GRCh38
NC_000006.11:g.7584686C>T , CM000668.1:g.7584686C>T	GRCh37
NC_000006.10:g.7529685C>T	NCBI36
NG_008803.1:g.47817C>T , LRG_423:g.47817C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.5862C>T	ENSP00000518230.1:p.Phe1954=
ENST00000379802.8:c.7191C>T MANE Select	ENSP00000369129.3:p.Phe2397=
ENST00000379802.7:c.7191C>T	ENSP00000369129.3:p.Phe2397=
ENST00000418664.2:c.5394C>T	ENSP00000396591.2:p.Phe1798=
NM_001008844.1:c.5394C>T	NP_001008844.1:p.Phe1798=
NM_004415.2:c.7191C>T , LRG_423t1:c.7191C>T	NP_004406.2:p.Phe2397=
XM_011514323.1:c.5862C>T	XP_011512625.1:p.Phe1954=
NM_001008844.2:c.5394C>T	NP_001008844.1:p.Phe1798=
NM_001319034.1:c.5862C>T	NP_001305963.1:p.Phe1954=
NM_004415.3:c.7191C>T	NP_004406.2:p.Phe2397=
NM_004415.4:c.7191C>T MANE Select	NP_004406.2:p.Phe2397=
NM_001008844.3:c.5394C>T	NP_001008844.1:p.Phe1798=
NM_001319034.2:c.5862C>T	NP_001305963.1:p.Phe1954=