Canonical Allele Identifier: CA051169

Gene: DSP

Linked Data

• ClinVar Variation Id: 2200571
• ClinVar RCV Id: RCV002638283 ; RCV004009521
• dbSNP Id: rs770447003
• ExAC: 6:7585415 C / T
• gnomAD v2: 6-7585415-C-T
• gnomAD v4: 6-7585182-C-T
• MyVariant Identifiers: chr6:g.7585415C>T (hg19) ; chr6:g.7585182C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585182C>T , CM000668.2:g.7585182C>T	GRCh38
NC_000006.11:g.7585415C>T , CM000668.1:g.7585415C>T	GRCh37
NC_000006.10:g.7530414C>T	NCBI36
NG_008803.1:g.48546C>T , LRG_423:g.48546C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6591C>T	ENSP00000518230.1:p.Gly2197=
ENST00000379802.8:c.7920C>T MANE Select	ENSP00000369129.3:p.Gly2640=
ENST00000379802.7:c.7920C>T	ENSP00000369129.3:p.Gly2640=
ENST00000418664.2:c.6123C>T	ENSP00000396591.2:p.Gly2041=
NM_001008844.1:c.6123C>T	NP_001008844.1:p.Gly2041=
NM_004415.2:c.7920C>T , LRG_423t1:c.7920C>T	NP_004406.2:p.Gly2640=
XM_011514323.1:c.6591C>T	XP_011512625.1:p.Gly2197=
NM_001008844.2:c.6123C>T	NP_001008844.1:p.Gly2041=
NM_001319034.1:c.6591C>T	NP_001305963.1:p.Gly2197=
NM_004415.3:c.7920C>T	NP_004406.2:p.Gly2640=
NM_004415.4:c.7920C>T MANE Select	NP_004406.2:p.Gly2640=
NM_001008844.3:c.6123C>T	NP_001008844.1:p.Gly2041=
NM_001319034.2:c.6591C>T	NP_001305963.1:p.Gly2197=