Canonical Allele Identifier: CA049348

Gene: DSP

Linked Data

• ClinVar Variation Id: 222585
• ClinVar RCV Id: RCV000208310
• dbSNP Id: rs760501352
• ExAC: 6:7584744 G / T
• gnomAD v2: 6-7584744-G-T
• gnomAD v4: 6-7584511-G-T
• MyVariant Identifiers: chr6:g.7584744G>T (hg19) ; chr6:g.7584511G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584511G>T , CM000668.2:g.7584511G>T	GRCh38
NC_000006.11:g.7584744G>T , CM000668.1:g.7584744G>T	GRCh37
NC_000006.10:g.7529743G>T	NCBI36
NG_008803.1:g.47875G>T , LRG_423:g.47875G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.5920G>T	ENSP00000518230.1:p.Asp1974Tyr
ENST00000379802.8:c.7249G>T MANE Select	ENSP00000369129.3:p.Asp2417Tyr
ENST00000379802.7:c.7249G>T	ENSP00000369129.3:p.Asp2417Tyr
ENST00000418664.2:c.5452G>T	ENSP00000396591.2:p.Asp1818Tyr
NM_001008844.1:c.5452G>T	NP_001008844.1:p.Asp1818Tyr
NM_004415.2:c.7249G>T , LRG_423t1:c.7249G>T	NP_004406.2:p.Asp2417Tyr
XM_011514323.1:c.5920G>T	XP_011512625.1:p.Asp1974Tyr
NM_001008844.2:c.5452G>T	NP_001008844.1:p.Asp1818Tyr
NM_001319034.1:c.5920G>T	NP_001305963.1:p.Asp1974Tyr
NM_004415.3:c.7249G>T	NP_004406.2:p.Asp2417Tyr
NM_004415.4:c.7249G>T MANE Select	NP_004406.2:p.Asp2417Tyr
NM_001008844.3:c.5452G>T	NP_001008844.1:p.Asp1818Tyr
NM_001319034.2:c.5920G>T	NP_001305963.1:p.Asp1974Tyr