Canonical Allele Identifier: CA454934994

Linked Data

MyVariant Identifiers: chr7:g.50563077T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50495379T>G , CM000669.2:g.50495379T>G GRCh38
NC_000007.13:g.50563077T>G , CM000669.1:g.50563077T>G GRCh37
NC_000007.12:g.50530571T>G NCBI36
NG_008742.1:g.75078A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000444124.7:c.915A>C (DDC) MANE Select ENSP00000403644.2:p.Leu305=
ENST00000357936.9:c.915A>C (DDC) ENSP00000350616.5:p.Leu305=
ENST00000380984.4:c.915A>C (DDC) ENSP00000370371.4:p.Leu305=
ENST00000426377.5:c.681A>C (DDC) ENSP00000395069.1:p.Leu227=
ENST00000430300.5:c.557A>C (DDC)
ENST00000431062.5:c.636A>C (DDC) ENSP00000399184.1:p.Leu212=
ENST00000444124.6:c.915A>C (DDC) ENSP00000403644.2:p.Leu305=
ENST00000444733.5:c.*16A>C (DDC) ENSP00000393724.1:n.*16A>C
ENST00000613602.3:c.-11+47139A>C (FIGNL1) ENSP00000481751.1:n.-11+47139A>C
ENST00000615193.4:c.636A>C (DDC) ENSP00000484104.1:p.Leu212=
ENST00000617822.4:c.771A>C (DDC) ENSP00000478385.1:p.Leu257=
ENST00000622873.4:c.801A>C (DDC) ENSP00000479110.1:p.Leu267=
NM_000790.3:c.915A>C (DDC) NP_000781.1:p.Leu305=
NM_001082971.1:c.915A>C (DDC) NP_001076440.1:p.Leu305=
NM_001242886.1:c.801A>C (DDC) NP_001229815.1:p.Leu267=
NM_001242887.1:c.771A>C (DDC) NP_001229816.1:p.Leu257=
NM_001242888.1:c.681A>C (DDC) NP_001229817.1:p.Leu227=
NM_001242889.1:c.636A>C (DDC) NP_001229818.1:p.Leu212=
NM_001242890.1:c.915A>C (DDC) NP_001229819.1:p.Leu305=
XM_005271745.3:c.801A>C (DDC) XP_005271802.1:p.Leu267=
XM_011515161.1:c.564A>C (DDC) XP_011513463.1:p.Leu188=
XM_005271745.4:c.801A>C (DDC) XP_005271802.1:p.Leu267=
XM_011515161.2:c.858A>C (DDC) XP_011513463.2:p.Leu286=
NM_001082971.2:c.915A>C (DDC) MANE Select NP_001076440.2:p.Leu305=
NM_000790.4:c.915A>C (DDC) NP_000781.2:p.Leu305=
NM_001242888.2:c.681A>C (DDC) NP_001229817.2:p.Leu227=
NM_001242890.2:c.915A>C (DDC) NP_001229819.2:p.Leu305=
NM_001242886.2:c.801A>C (DDC) NP_001229815.2:p.Leu267=
NM_001242887.2:c.771A>C (DDC) NP_001229816.2:p.Leu257=
NM_001242889.2:c.636A>C (DDC) NP_001229818.2:p.Leu212=