Canonical Allele Identifier: CA448716435
Gene: DSP HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.7584740T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7584507T>C , CM000668.2:g.7584507T>C GRCh38
NC_000006.11:g.7584740T>C , CM000668.1:g.7584740T>C GRCh37
NC_000006.10:g.7529739T>C NCBI36
NG_008803.1:g.47871T>C , LRG_423:g.47871T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.5916T>C ENSP00000518230.1:p.Phe1972=
ENST00000379802.8:c.7245T>C MANE Select ENSP00000369129.3:p.Phe2415=
ENST00000379802.7:c.7245T>C ENSP00000369129.3:p.Phe2415=
ENST00000418664.2:c.5448T>C ENSP00000396591.2:p.Phe1816=
NM_001008844.1:c.5448T>C NP_001008844.1:p.Phe1816=
NM_004415.2:c.7245T>C , LRG_423t1:c.7245T>C NP_004406.2:p.Phe2415=
XM_011514323.1:c.5916T>C XP_011512625.1:p.Phe1972=
NM_001008844.2:c.5448T>C NP_001008844.1:p.Phe1816=
NM_001319034.1:c.5916T>C NP_001305963.1:p.Phe1972=
NM_004415.3:c.7245T>C NP_004406.2:p.Phe2415=
NM_004415.4:c.7245T>C MANE Select NP_004406.2:p.Phe2415=
NM_001008844.3:c.5448T>C NP_001008844.1:p.Phe1816=
NM_001319034.2:c.5916T>C NP_001305963.1:p.Phe1972=