Canonical Allele Identifier: CA448715777
Gene: DSP HGNC NCBI

Linked Data

COSMIC: COSM127848
MyVariant Identifiers: chr6:g.7583609A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7583376A>G , CM000668.2:g.7583376A>G GRCh38
NC_000006.11:g.7583609A>G , CM000668.1:g.7583609A>G GRCh37
NC_000006.10:g.7528608A>G NCBI36
NG_008803.1:g.46740A>G , LRG_423:g.46740A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.4785A>G ENSP00000518230.1:p.Lys1595=
ENST00000379802.8:c.6114A>G MANE Select ENSP00000369129.3:p.Lys2038=
ENST00000379802.7:c.6114A>G ENSP00000369129.3:p.Lys2038=
ENST00000418664.2:c.4317A>G ENSP00000396591.2:p.Lys1439=
NM_001008844.1:c.4317A>G NP_001008844.1:p.Lys1439=
NM_004415.2:c.6114A>G , LRG_423t1:c.6114A>G NP_004406.2:p.Lys2038=
XM_011514323.1:c.4785A>G XP_011512625.1:p.Lys1595=
NM_001008844.2:c.4317A>G NP_001008844.1:p.Lys1439=
NM_001319034.1:c.4785A>G NP_001305963.1:p.Lys1595=
NM_004415.3:c.6114A>G NP_004406.2:p.Lys2038=
NM_004415.4:c.6114A>G MANE Select NP_004406.2:p.Lys2038=
NM_001008844.3:c.4317A>G NP_001008844.1:p.Lys1439=
NM_001319034.2:c.4785A>G NP_001305963.1:p.Lys1595=