Canonical Allele Identifier: CA047115

Gene: DSP

Linked Data

• ClinVar Variation Id: 432555
• ClinVar RCV Id: RCV000498892
• dbSNP Id: rs764619784
• ExAC: 6:7583724 C / G
• gnomAD v2: 6-7583724-C-G
• gnomAD v4: 6-7583491-C-G
• MyVariant Identifiers: chr6:g.7583724C>G (hg19) ; chr6:g.7583491C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583491C>G , CM000668.2:g.7583491C>G	GRCh38
NC_000006.11:g.7583724C>G , CM000668.1:g.7583724C>G	GRCh37
NC_000006.10:g.7528723C>G	NCBI36
NG_008803.1:g.46855C>G , LRG_423:g.46855C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.4900C>G	ENSP00000518230.1:p.Leu1634Val
ENST00000379802.8:c.6229C>G MANE Select	ENSP00000369129.3:p.Leu2077Val
ENST00000379802.7:c.6229C>G	ENSP00000369129.3:p.Leu2077Val
ENST00000418664.2:c.4432C>G	ENSP00000396591.2:p.Leu1478Val
NM_001008844.1:c.4432C>G	NP_001008844.1:p.Leu1478Val
NM_004415.2:c.6229C>G , LRG_423t1:c.6229C>G	NP_004406.2:p.Leu2077Val
XM_011514323.1:c.4900C>G	XP_011512625.1:p.Leu1634Val
NM_001008844.2:c.4432C>G	NP_001008844.1:p.Leu1478Val
NM_001319034.1:c.4900C>G	NP_001305963.1:p.Leu1634Val
NM_004415.3:c.6229C>G	NP_004406.2:p.Leu2077Val
NM_004415.4:c.6229C>G MANE Select	NP_004406.2:p.Leu2077Val
NM_001008844.3:c.4432C>G	NP_001008844.1:p.Leu1478Val
NM_001319034.2:c.4900C>G	NP_001305963.1:p.Leu1634Val