Canonical Allele Identifier: CA448715513

Gene: DSP

Linked Data

• ClinVar Variation Id: 1127429
• ClinVar RCV Id: RCV001459824
• dbSNP Id: rs2113698631
• MyVariant Identifiers: chr6:g.7583240T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583007T>C , CM000668.2:g.7583007T>C	GRCh38
NC_000006.11:g.7583240T>C , CM000668.1:g.7583240T>C	GRCh37
NC_000006.10:g.7528239T>C	NCBI36
NG_008803.1:g.46371T>C , LRG_423:g.46371T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4416T>C	ENSP00000518230.1:p.Arg1472=
ENST00000379802.8:c.5745T>C MANE Select	ENSP00000369129.3:p.Arg1915=
ENST00000379802.7:c.5745T>C	ENSP00000369129.3:p.Arg1915=
ENST00000418664.2:c.3948T>C	ENSP00000396591.2:p.Arg1316=
NM_001008844.1:c.3948T>C	NP_001008844.1:p.Arg1316=
NM_004415.2:c.5745T>C , LRG_423t1:c.5745T>C	NP_004406.2:p.Arg1915=
XM_011514323.1:c.4416T>C	XP_011512625.1:p.Arg1472=
NM_001008844.2:c.3948T>C	NP_001008844.1:p.Arg1316=
NM_001319034.1:c.4416T>C	NP_001305963.1:p.Arg1472=
NM_004415.3:c.5745T>C	NP_004406.2:p.Arg1915=
NM_004415.4:c.5745T>C MANE Select	NP_004406.2:p.Arg1915=
NM_001008844.3:c.3948T>C	NP_001008844.1:p.Arg1316=
NM_001319034.2:c.4416T>C	NP_001305963.1:p.Arg1472=