Canonical Allele Identifier: CA051161

Gene: DSP

Linked Data

• ClinVar Variation Id: 965445
• ClinVar RCV Id: RCV001239895 ; RCV002418821
• dbSNP Id: rs770390645
• ExAC: 6:7585413 G / T
• gnomAD v2: 6-7585413-G-T
• gnomAD v3: 6-7585180-G-T
• gnomAD v4: 6-7585180-G-T
• MyVariant Identifiers: chr6:g.7585413G>T (hg19) ; chr6:g.7585180G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585180G>T , CM000668.2:g.7585180G>T	GRCh38
NC_000006.11:g.7585413G>T , CM000668.1:g.7585413G>T	GRCh37
NC_000006.10:g.7530412G>T	NCBI36
NG_008803.1:g.48544G>T , LRG_423:g.48544G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6589G>T	ENSP00000518230.1:p.Gly2197Cys
ENST00000379802.8:c.7918G>T MANE Select	ENSP00000369129.3:p.Gly2640Cys
ENST00000379802.7:c.7918G>T	ENSP00000369129.3:p.Gly2640Cys
ENST00000418664.2:c.6121G>T	ENSP00000396591.2:p.Gly2041Cys
NM_001008844.1:c.6121G>T	NP_001008844.1:p.Gly2041Cys
NM_004415.2:c.7918G>T , LRG_423t1:c.7918G>T	NP_004406.2:p.Gly2640Cys
XM_011514323.1:c.6589G>T	XP_011512625.1:p.Gly2197Cys
NM_001008844.2:c.6121G>T	NP_001008844.1:p.Gly2041Cys
NM_001319034.1:c.6589G>T	NP_001305963.1:p.Gly2197Cys
NM_004415.3:c.7918G>T	NP_004406.2:p.Gly2640Cys
NM_004415.4:c.7918G>T MANE Select	NP_004406.2:p.Gly2640Cys
NM_001008844.3:c.6121G>T	NP_001008844.1:p.Gly2041Cys
NM_001319034.2:c.6589G>T	NP_001305963.1:p.Gly2197Cys