Canonical Allele Identifier: CA005407
Community Standard Title: NM_004415.4(DSP):c.2552T>A (p.Leu851Gln)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7575410T>A , CM000668.2:g.7575410T>A GRCh38
NC_000006.11:g.7575643T>A , CM000668.1:g.7575643T>A GRCh37
NC_000006.10:g.7520642T>A NCBI36
NG_008803.1:g.38774T>A , LRG_423:g.38774T>A

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.2552T>A MANE Select NP_004406.2:p.Leu851Gln
ENST00000379802.8:c.2552T>A MANE Select ENSP00000369129.3:p.Leu851Gln
NM_001008844.1:c.2552T>A NP_001008844.1:p.Leu851Gln
NM_001008844.2:c.2552T>A NP_001008844.1:p.Leu851Gln
NM_001008844.3:c.2552T>A NP_001008844.1:p.Leu851Gln
NM_001319034.1:c.2552T>A NP_001305963.1:p.Leu851Gln
NM_001319034.2:c.2552T>A NP_001305963.1:p.Leu851Gln
NM_004415.2:c.2552T>A , LRG_423t1:c.2552T>A NP_004406.2:p.Leu851Gln
NM_004415.3:c.2552T>A NP_004406.2:p.Leu851Gln
ENST00000379802.7:c.2552T>A ENSP00000369129.3:p.Leu851Gln
ENST00000418664.2:c.2552T>A ENSP00000396591.2:p.Leu851Gln
ENST00000684395.1:n.1193T>A
ENST00000710359.1:c.2552T>A ENSP00000518230.1:p.Leu851Gln
XM_011514323.1:c.2552T>A XP_011512625.1:p.Leu851Gln