Canonical Allele Identifier: CA448717253
Gene: DSP HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.7585706T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585473T>C , CM000668.2:g.7585473T>C GRCh38
NC_000006.11:g.7585706T>C , CM000668.1:g.7585706T>C GRCh37
NC_000006.10:g.7530705T>C NCBI36
NG_008803.1:g.48837T>C , LRG_423:g.48837T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.6882T>C ENSP00000518230.1:p.Val2294=
ENST00000379802.8:c.8211T>C MANE Select ENSP00000369129.3:p.Val2737=
ENST00000379802.7:c.8211T>C ENSP00000369129.3:p.Val2737=
ENST00000418664.2:c.6414T>C ENSP00000396591.2:p.Val2138=
NM_001008844.1:c.6414T>C NP_001008844.1:p.Val2138=
NM_004415.2:c.8211T>C , LRG_423t1:c.8211T>C NP_004406.2:p.Val2737=
XM_011514323.1:c.6882T>C XP_011512625.1:p.Val2294=
NM_001008844.2:c.6414T>C NP_001008844.1:p.Val2138=
NM_001319034.1:c.6882T>C NP_001305963.1:p.Val2294=
NM_004415.3:c.8211T>C NP_004406.2:p.Val2737=
NM_004415.4:c.8211T>C MANE Select NP_004406.2:p.Val2737=
NM_001008844.3:c.6414T>C NP_001008844.1:p.Val2138=
NM_001319034.2:c.6882T>C NP_001305963.1:p.Val2294=