Canonical Allele Identifier: CA362690102
Gene: DSP HGNC NCBI

Linked Data

dbSNP Id: rs2113699566

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7583373G>T , CM000668.2:g.7583373G>T GRCh38
NC_000006.11:g.7583606G>T , CM000668.1:g.7583606G>T GRCh37
NC_000006.10:g.7528605G>T NCBI36
NG_008803.1:g.46737G>T , LRG_423:g.46737G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.4782G>T ENSP00000518230.1:p.Lys1594Asn
ENST00000379802.8:c.6111G>T MANE Select ENSP00000369129.3:p.Lys2037Asn
ENST00000379802.7:c.6111G>T ENSP00000369129.3:p.Lys2037Asn
ENST00000418664.2:c.4314G>T ENSP00000396591.2:p.Lys1438Asn
NM_001008844.1:c.4314G>T NP_001008844.1:p.Lys1438Asn
NM_004415.2:c.6111G>T , LRG_423t1:c.6111G>T NP_004406.2:p.Lys2037Asn
XM_011514323.1:c.4782G>T XP_011512625.1:p.Lys1594Asn
NM_001008844.2:c.4314G>T NP_001008844.1:p.Lys1438Asn
NM_001319034.1:c.4782G>T NP_001305963.1:p.Lys1594Asn
NM_004415.3:c.6111G>T NP_004406.2:p.Lys2037Asn
NM_004415.4:c.6111G>T MANE Select NP_004406.2:p.Lys2037Asn
NM_001008844.3:c.4314G>T NP_001008844.1:p.Lys1438Asn
NM_001319034.2:c.4782G>T NP_001305963.1:p.Lys1594Asn