Canonical Allele Identifier: CA367538080

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50495375C>A , CM000669.2:g.50495375C>A GRCh38
NC_000007.13:g.50563073C>A , CM000669.1:g.50563073C>A GRCh37
NC_000007.12:g.50530567C>A NCBI36
NG_008742.1:g.75082G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000444124.7:c.919G>T (DDC) MANE Select ENSP00000403644.2:p.Val307Leu
ENST00000357936.9:c.919G>T (DDC) ENSP00000350616.5:p.Val307Leu
ENST00000380984.4:c.919G>T (DDC) ENSP00000370371.4:p.Val307Leu
ENST00000426377.5:c.685G>T (DDC) ENSP00000395069.1:p.Val229Leu
ENST00000430300.5:c.561G>T (DDC)
ENST00000431062.5:c.640G>T (DDC) ENSP00000399184.1:p.Val214Leu
ENST00000444124.6:c.919G>T (DDC) ENSP00000403644.2:p.Val307Leu
ENST00000444733.5:c.*20G>T (DDC) ENSP00000393724.1:n.*20G>T
ENST00000613602.3:c.-11+47143G>T (FIGNL1) ENSP00000481751.1:n.-11+47143G>T
ENST00000615193.4:c.640G>T (DDC) ENSP00000484104.1:p.Val214Leu
ENST00000617822.4:c.775G>T (DDC) ENSP00000478385.1:p.Val259Leu
ENST00000622873.4:c.805G>T (DDC) ENSP00000479110.1:p.Val269Leu
NM_000790.3:c.919G>T (DDC) NP_000781.1:p.Val307Leu
NM_001082971.1:c.919G>T (DDC) NP_001076440.1:p.Val307Leu
NM_001242886.1:c.805G>T (DDC) NP_001229815.1:p.Val269Leu
NM_001242887.1:c.775G>T (DDC) NP_001229816.1:p.Val259Leu
NM_001242888.1:c.685G>T (DDC) NP_001229817.1:p.Val229Leu
NM_001242889.1:c.640G>T (DDC) NP_001229818.1:p.Val214Leu
NM_001242890.1:c.919G>T (DDC) NP_001229819.1:p.Val307Leu
XM_005271745.3:c.805G>T (DDC) XP_005271802.1:p.Val269Leu
XM_011515161.1:c.568G>T (DDC) XP_011513463.1:p.Val190Leu
XM_005271745.4:c.805G>T (DDC) XP_005271802.1:p.Val269Leu
XM_011515161.2:c.862G>T (DDC) XP_011513463.2:p.Val288Leu
NM_001082971.2:c.919G>T (DDC) MANE Select NP_001076440.2:p.Val307Leu
NM_000790.4:c.919G>T (DDC) NP_000781.2:p.Val307Leu
NM_001242888.2:c.685G>T (DDC) NP_001229817.2:p.Val229Leu
NM_001242890.2:c.919G>T (DDC) NP_001229819.2:p.Val307Leu
NM_001242886.2:c.805G>T (DDC) NP_001229815.2:p.Val269Leu
NM_001242887.2:c.775G>T (DDC) NP_001229816.2:p.Val259Leu
NM_001242889.2:c.640G>T (DDC) NP_001229818.2:p.Val214Leu