Canonical Allele Identifier: CA362684937

Gene: DSP

Linked Data

• dbSNP Id: rs1487309339
• gnomAD v2: 6-7580249-C-G
• gnomAD v4: 6-7580016-C-G
• COSMIC: COSM4835667
• MyVariant Identifiers: chr6:g.7580249C>G (hg19) ; chr6:g.7580016C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7580016C>G , CM000668.2:g.7580016C>G	GRCh38
NC_000006.11:g.7580249C>G , CM000668.1:g.7580249C>G	GRCh37
NC_000006.10:g.7525248C>G	NCBI36
NG_008803.1:g.43380C>G , LRG_423:g.43380C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3826C>G	ENSP00000518230.1:p.Gln1276Glu
ENST00000379802.8:c.3826C>G MANE Select	ENSP00000369129.3:p.Gln1276Glu
ENST00000379802.7:c.3826C>G	ENSP00000369129.3:p.Gln1276Glu
ENST00000418664.2:c.3582+244C>G	ENSP00000396591.2:n.3582+244C>G
NM_001008844.1:c.3582+244C>G	NP_001008844.1:n.3582+244C>G
NM_004415.2:c.3826C>G , LRG_423t1:c.3826C>G	NP_004406.2:p.Gln1276Glu
XM_011514323.1:c.3826C>G	XP_011512625.1:p.Gln1276Glu
NM_001008844.2:c.3582+244C>G	NP_001008844.1:n.3582+244C>G
NM_001319034.1:c.3826C>G	NP_001305963.1:p.Gln1276Glu
NM_004415.3:c.3826C>G	NP_004406.2:p.Gln1276Glu
NM_004415.4:c.3826C>G MANE Select	NP_004406.2:p.Gln1276Glu
NM_001008844.3:c.3582+244C>G	NP_001008844.1:n.3582+244C>G
NM_001319034.2:c.3826C>G	NP_001305963.1:p.Gln1276Glu