Canonical Allele Identifier: CA051169
Community Standard Title: NM_004415.4(DSP):c.7920C>T (p.Gly2640=)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585182C>T , CM000668.2:g.7585182C>T GRCh38
NC_000006.11:g.7585415C>T , CM000668.1:g.7585415C>T GRCh37
NC_000006.10:g.7530414C>T NCBI36
NG_008803.1:g.48546C>T , LRG_423:g.48546C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.7920C>T MANE Select NP_004406.2:p.Gly2640=
ENST00000379802.8:c.7920C>T MANE Select ENSP00000369129.3:p.Gly2640=
NM_001008844.1:c.6123C>T NP_001008844.1:p.Gly2041=
NM_001008844.2:c.6123C>T NP_001008844.1:p.Gly2041=
NM_001008844.3:c.6123C>T NP_001008844.1:p.Gly2041=
NM_001319034.1:c.6591C>T NP_001305963.1:p.Gly2197=
NM_001319034.2:c.6591C>T NP_001305963.1:p.Gly2197=
NM_004415.2:c.7920C>T , LRG_423t1:c.7920C>T NP_004406.2:p.Gly2640=
NM_004415.3:c.7920C>T NP_004406.2:p.Gly2640=
ENST00000379802.7:c.7920C>T ENSP00000369129.3:p.Gly2640=
ENST00000418664.2:c.6123C>T ENSP00000396591.2:p.Gly2041=
ENST00000710359.1:c.6591C>T ENSP00000518230.1:p.Gly2197=
XM_011514323.1:c.6591C>T XP_011512625.1:p.Gly2197=