Canonical Allele Identifier: CA362679638

Gene: DSP

Linked Data

• ClinVar Variation Id: 372127
• ClinVar RCV Id: RCV000412530
• dbSNP Id: rs1554107098
• MyVariant Identifiers: chr6:g.7571779T>C (hg19) ; chr6:g.7571546T>C (hg38)
• PubMed: PMID:26604139

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7571546T>C , CM000668.2:g.7571546T>C	GRCh38
NC_000006.11:g.7571779T>C , CM000668.1:g.7571779T>C	GRCh37
NC_000006.10:g.7516778T>C	NCBI36
NG_008803.1:g.34910T>C , LRG_423:g.34910T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.1865T>C	ENSP00000518230.1:p.Leu622Pro
ENST00000684395.1:n.249T>C
ENST00000379802.8:c.1865T>C MANE Select	ENSP00000369129.3:p.Leu622Pro
ENST00000379802.7:c.1865T>C	ENSP00000369129.3:p.Leu622Pro
ENST00000418664.2:c.1865T>C	ENSP00000396591.2:p.Leu622Pro
NM_001008844.1:c.1865T>C	NP_001008844.1:p.Leu622Pro
NM_004415.2:c.1865T>C , LRG_423t1:c.1865T>C	NP_004406.2:p.Leu622Pro
XM_011514323.1:c.1865T>C	XP_011512625.1:p.Leu622Pro
NM_001008844.2:c.1865T>C	NP_001008844.1:p.Leu622Pro
NM_001319034.1:c.1865T>C	NP_001305963.1:p.Leu622Pro
NM_004415.3:c.1865T>C	NP_004406.2:p.Leu622Pro
NM_004415.4:c.1865T>C MANE Select	NP_004406.2:p.Leu622Pro
NM_001008844.3:c.1865T>C	NP_001008844.1:p.Leu622Pro
NM_001319034.2:c.1865T>C	NP_001305963.1:p.Leu622Pro