Canonical Allele Identifier: CA362692806
Community Standard Title: NM_004415.4(DSP):c.7350G>C (p.Lys2450Asn)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7584612G>C , CM000668.2:g.7584612G>C GRCh38
NC_000006.11:g.7584845G>C , CM000668.1:g.7584845G>C GRCh37
NC_000006.10:g.7529844G>C NCBI36
NG_008803.1:g.47976G>C , LRG_423:g.47976G>C

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.7350G>C MANE Select NP_004406.2:p.Lys2450Asn
ENST00000379802.8:c.7350G>C MANE Select ENSP00000369129.3:p.Lys2450Asn
NM_001008844.1:c.5553G>C NP_001008844.1:p.Lys1851Asn
NM_001008844.2:c.5553G>C NP_001008844.1:p.Lys1851Asn
NM_001008844.3:c.5553G>C NP_001008844.1:p.Lys1851Asn
NM_001319034.1:c.6021G>C NP_001305963.1:p.Lys2007Asn
NM_001319034.2:c.6021G>C NP_001305963.1:p.Lys2007Asn
NM_004415.2:c.7350G>C , LRG_423t1:c.7350G>C NP_004406.2:p.Lys2450Asn
NM_004415.3:c.7350G>C NP_004406.2:p.Lys2450Asn
ENST00000379802.7:c.7350G>C ENSP00000369129.3:p.Lys2450Asn
ENST00000418664.2:c.5553G>C ENSP00000396591.2:p.Lys1851Asn
ENST00000710359.1:c.6021G>C ENSP00000518230.1:p.Lys2007Asn
XM_011514323.1:c.6021G>C XP_011512625.1:p.Lys2007Asn