Canonical Allele Identifier: CA007306
Community Standard Title: NM_004415.4(DSP):c.7864A>G (p.Ile2622Val)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585126A>G , CM000668.2:g.7585126A>G GRCh38
NC_000006.11:g.7585359A>G , CM000668.1:g.7585359A>G GRCh37
NC_000006.10:g.7530358A>G NCBI36
NG_008803.1:g.48490A>G , LRG_423:g.48490A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.7864A>G MANE Select NP_004406.2:p.Ile2622Val
ENST00000379802.8:c.7864A>G MANE Select ENSP00000369129.3:p.Ile2622Val
NM_001008844.1:c.6067A>G NP_001008844.1:p.Ile2023Val
NM_001008844.2:c.6067A>G NP_001008844.1:p.Ile2023Val
NM_001008844.3:c.6067A>G NP_001008844.1:p.Ile2023Val
NM_001319034.1:c.6535A>G NP_001305963.1:p.Ile2179Val
NM_001319034.2:c.6535A>G NP_001305963.1:p.Ile2179Val
NM_004415.2:c.7864A>G , LRG_423t1:c.7864A>G NP_004406.2:p.Ile2622Val
NM_004415.3:c.7864A>G NP_004406.2:p.Ile2622Val
ENST00000379802.7:c.7864A>G ENSP00000369129.3:p.Ile2622Val
ENST00000418664.2:c.6067A>G ENSP00000396591.2:p.Ile2023Val
ENST00000710359.1:c.6535A>G ENSP00000518230.1:p.Ile2179Val
XM_011514323.1:c.6535A>G XP_011512625.1:p.Ile2179Val