Canonical Allele Identifier: CA362685082

Gene: DSP

Linked Data

• gnomAD v4: 6-7580082-G-A
• MyVariant Identifiers: chr6:g.7580315G>A (hg19) ; chr6:g.7580082G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7580082G>A , CM000668.2:g.7580082G>A	GRCh38
NC_000006.11:g.7580315G>A , CM000668.1:g.7580315G>A	GRCh37
NC_000006.10:g.7525314G>A	NCBI36
NG_008803.1:g.43446G>A , LRG_423:g.43446G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3892G>A	ENSP00000518230.1:p.Val1298Ile
ENST00000379802.8:c.3892G>A MANE Select	ENSP00000369129.3:p.Val1298Ile
ENST00000379802.7:c.3892G>A	ENSP00000369129.3:p.Val1298Ile
ENST00000418664.2:c.3582+310G>A	ENSP00000396591.2:n.3582+310G>A
NM_001008844.1:c.3582+310G>A	NP_001008844.1:n.3582+310G>A
NM_004415.2:c.3892G>A , LRG_423t1:c.3892G>A	NP_004406.2:p.Val1298Ile
XM_011514323.1:c.3892G>A	XP_011512625.1:p.Val1298Ile
NM_001008844.2:c.3582+310G>A	NP_001008844.1:n.3582+310G>A
NM_001319034.1:c.3892G>A	NP_001305963.1:p.Val1298Ile
NM_004415.3:c.3892G>A	NP_004406.2:p.Val1298Ile
NM_004415.4:c.3892G>A MANE Select	NP_004406.2:p.Val1298Ile
NM_001008844.3:c.3582+310G>A	NP_001008844.1:n.3582+310G>A
NM_001319034.2:c.3892G>A	NP_001305963.1:p.Val1298Ile