Canonical Allele Identifier: CA362694692

Gene: DSP

Linked Data

• ClinVar Variation Id: 2167885
• ClinVar RCV Id: RCV003086671 ; RCV003238914 ; RCV004009417 ; RCV004073210
• dbSNP Id: rs1759627302
• MyVariant Identifiers: chr6:g.7585713G>C (hg19) ; chr6:g.7585480G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585480G>C , CM000668.2:g.7585480G>C	GRCh38
NC_000006.11:g.7585713G>C , CM000668.1:g.7585713G>C	GRCh37
NC_000006.10:g.7530712G>C	NCBI36
NG_008803.1:g.48844G>C , LRG_423:g.48844G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6889G>C	ENSP00000518230.1:p.Glu2297Gln
ENST00000379802.8:c.8218G>C MANE Select	ENSP00000369129.3:p.Glu2740Gln
ENST00000379802.7:c.8218G>C	ENSP00000369129.3:p.Glu2740Gln
ENST00000418664.2:c.6421G>C	ENSP00000396591.2:p.Glu2141Gln
NM_001008844.1:c.6421G>C	NP_001008844.1:p.Glu2141Gln
NM_004415.2:c.8218G>C , LRG_423t1:c.8218G>C	NP_004406.2:p.Glu2740Gln
XM_011514323.1:c.6889G>C	XP_011512625.1:p.Glu2297Gln
NM_001008844.2:c.6421G>C	NP_001008844.1:p.Glu2141Gln
NM_001319034.1:c.6889G>C	NP_001305963.1:p.Glu2297Gln
NM_004415.3:c.8218G>C	NP_004406.2:p.Glu2740Gln
NM_004415.4:c.8218G>C MANE Select	NP_004406.2:p.Glu2740Gln
NM_001008844.3:c.6421G>C	NP_001008844.1:p.Glu2141Gln
NM_001319034.2:c.6889G>C	NP_001305963.1:p.Glu2297Gln