Canonical Allele Identifier: CA053329

Gene: DSP

Linked Data

• ClinVar Variation Id: 1436428
• ClinVar RCV Id: RCV001987364 ; RCV002442905
• dbSNP Id: rs558825586
• ExAC: 6:7566614 G / T
• gnomAD v2: 6-7566614-G-T
• gnomAD v4: 6-7566381-G-T
• MyVariant Identifiers: chr6:g.7566614G>T (hg19) ; chr6:g.7566381G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7566381G>T , CM000668.2:g.7566381G>T	GRCh38
NC_000006.11:g.7566614G>T , CM000668.1:g.7566614G>T	GRCh37
NC_000006.10:g.7511613G>T	NCBI36
NG_008803.1:g.29745G>T , LRG_423:g.29745G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.944G>T	ENSP00000518230.1:p.Arg315Leu
ENST00000682228.1:n.268G>T
ENST00000379802.8:c.944G>T MANE Select	ENSP00000369129.3:p.Arg315Leu
ENST00000379802.7:c.944G>T	ENSP00000369129.3:p.Arg315Leu
ENST00000418664.2:c.944G>T	ENSP00000396591.2:p.Arg315Leu
NM_001008844.1:c.944G>T	NP_001008844.1:p.Arg315Leu
NM_004415.2:c.944G>T , LRG_423t1:c.944G>T	NP_004406.2:p.Arg315Leu
XM_011514323.1:c.944G>T	XP_011512625.1:p.Arg315Leu
NM_001008844.2:c.944G>T	NP_001008844.1:p.Arg315Leu
NM_001319034.1:c.944G>T	NP_001305963.1:p.Arg315Leu
NM_004415.3:c.944G>T	NP_004406.2:p.Arg315Leu
NM_004415.4:c.944G>T MANE Select	NP_004406.2:p.Arg315Leu
NM_001008844.3:c.944G>T	NP_001008844.1:p.Arg315Leu
NM_001319034.2:c.944G>T	NP_001305963.1:p.Arg315Leu