Canonical Allele Identifier: CA448716896

Gene: DSP

Linked Data

• ClinVar Variation Id: 3069492
• ClinVar RCV Id: RCV004008036
• MyVariant Identifiers: chr6:g.7585397A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585164A>C , CM000668.2:g.7585164A>C	GRCh38
NC_000006.11:g.7585397A>C , CM000668.1:g.7585397A>C	GRCh37
NC_000006.10:g.7530396A>C	NCBI36
NG_008803.1:g.48528A>C , LRG_423:g.48528A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6573A>C	ENSP00000518230.1:p.Thr2191=
ENST00000379802.8:c.7902A>C MANE Select	ENSP00000369129.3:p.Thr2634=
ENST00000379802.7:c.7902A>C	ENSP00000369129.3:p.Thr2634=
ENST00000418664.2:c.6105A>C	ENSP00000396591.2:p.Thr2035=
NM_001008844.1:c.6105A>C	NP_001008844.1:p.Thr2035=
NM_004415.2:c.7902A>C , LRG_423t1:c.7902A>C	NP_004406.2:p.Thr2634=
XM_011514323.1:c.6573A>C	XP_011512625.1:p.Thr2191=
NM_001008844.2:c.6105A>C	NP_001008844.1:p.Thr2035=
NM_001319034.1:c.6573A>C	NP_001305963.1:p.Thr2191=
NM_004415.3:c.7902A>C	NP_004406.2:p.Thr2634=
NM_004415.4:c.7902A>C MANE Select	NP_004406.2:p.Thr2634=
NM_001008844.3:c.6105A>C	NP_001008844.1:p.Thr2035=
NM_001319034.2:c.6573A>C	NP_001305963.1:p.Thr2191=