Canonical Allele Identifier: CA362675411

Gene: DSP DSP-AS1

Linked Data

• ClinVar Variation Id: 2932659
• ClinVar RCV Id: RCV003797825
• MyVariant Identifiers: chr6:g.7542153G>C (hg19) ; chr6:g.7541920G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7541920G>C , CM000668.2:g.7541920G>C	GRCh38
NC_000006.11:g.7542153G>C , CM000668.1:g.7542153G>C	GRCh37
NC_000006.10:g.7487152G>C	NCBI36
NG_008803.1:g.5284G>C , LRG_423:g.5284G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683682.2:c.5G>C (DSP)	ENSP00000508162.2:p.Ser2Thr
ENST00000710359.1:c.5G>C (DSP)	ENSP00000518230.1:p.Ser2Thr
ENST00000379802.8:c.5G>C (DSP) MANE Select	ENSP00000369129.3:p.Ser2Thr
ENST00000379802.7:c.5G>C (DSP)	ENSP00000369129.3:p.Ser2Thr
ENST00000418664.2:c.5G>C (DSP)	ENSP00000396591.2:p.Ser2Thr
NM_001008844.1:c.5G>C (DSP)	NP_001008844.1:p.Ser2Thr
NM_004415.2:c.5G>C , LRG_423t1:c.5G>C (DSP)	NP_004406.2:p.Ser2Thr
XM_011514323.1:c.5G>C (DSP)	XP_011512625.1:p.Ser2Thr
XR_241971.2:n.268+851C>G (DSP-AS1)
NM_001008844.2:c.5G>C (DSP)	NP_001008844.1:p.Ser2Thr
NM_001319034.1:c.5G>C (DSP)	NP_001305963.1:p.Ser2Thr
NM_004415.3:c.5G>C (DSP)	NP_004406.2:p.Ser2Thr
XR_241971.3:n.269+851C>G (DSP-AS1)
NM_004415.4:c.5G>C (DSP) MANE Select	NP_004406.2:p.Ser2Thr
NM_001008844.3:c.5G>C (DSP)	NP_001008844.1:p.Ser2Thr
NM_001319034.2:c.5G>C (DSP)	NP_001305963.1:p.Ser2Thr