Canonical Allele Identifier: CA007523

Gene: DSP

Linked Data

• ClinVar Variation Id: 163290
• ClinVar RCV Id: RCV000150583 ; RCV000777985 ; RCV000864820 ; RCV001704082 ; RCV000622033 ; RCV001293187
• dbSNP Id: rs377148997
• ExAC: 6:7585910 C / T
• gnomAD v2: 6-7585910-C-T
• gnomAD v3: 6-7585677-C-T
• gnomAD v4: 6-7585677-C-T
• MyVariant Identifiers: chr6:g.7585910C>T (hg19) ; chr6:g.7585677C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585677C>T , CM000668.2:g.7585677C>T	GRCh38
NC_000006.11:g.7585910C>T , CM000668.1:g.7585910C>T	GRCh37
NC_000006.10:g.7530909C>T	NCBI36
NG_008803.1:g.49041C>T , LRG_423:g.49041C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.7086C>T	ENSP00000518230.1:p.Ala2362=
ENST00000379802.8:c.8415C>T MANE Select	ENSP00000369129.3:p.Ala2805=
ENST00000379802.7:c.8415C>T	ENSP00000369129.3:p.Ala2805=
ENST00000418664.2:c.6618C>T	ENSP00000396591.2:p.Ala2206=
NM_001008844.1:c.6618C>T	NP_001008844.1:p.Ala2206=
NM_004415.2:c.8415C>T , LRG_423t1:c.8415C>T	NP_004406.2:p.Ala2805=
XM_011514323.1:c.7086C>T	XP_011512625.1:p.Ala2362=
NM_001008844.2:c.6618C>T	NP_001008844.1:p.Ala2206=
NM_001319034.1:c.7086C>T	NP_001305963.1:p.Ala2362=
NM_004415.3:c.8415C>T	NP_004406.2:p.Ala2805=
NM_004415.4:c.8415C>T MANE Select	NP_004406.2:p.Ala2805=
NM_001008844.3:c.6618C>T	NP_001008844.1:p.Ala2206=
NM_001319034.2:c.7086C>T	NP_001305963.1:p.Ala2362=