Canonical Allele Identifier: CA367538092

Gene: DDC FIGNL1

Linked Data

• MyVariant Identifiers: chr7:g.50563079G>T (hg19) ; chr7:g.50495381G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50495381G>T , CM000669.2:g.50495381G>T	GRCh38
NC_000007.13:g.50563079G>T , CM000669.1:g.50563079G>T	GRCh37
NC_000007.12:g.50530573G>T	NCBI36
NG_008742.1:g.75076C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000444124.7:c.913C>A (DDC) MANE Select	ENSP00000403644.2:p.Leu305Ile
ENST00000357936.9:c.913C>A (DDC)	ENSP00000350616.5:p.Leu305Ile
ENST00000380984.4:c.913C>A (DDC)	ENSP00000370371.4:p.Leu305Ile
ENST00000426377.5:c.679C>A (DDC)	ENSP00000395069.1:p.Leu227Ile
ENST00000430300.5:c.555C>A (DDC)
ENST00000431062.5:c.634C>A (DDC)	ENSP00000399184.1:p.Leu212Ile
ENST00000444124.6:c.913C>A (DDC)	ENSP00000403644.2:p.Leu305Ile
ENST00000444733.5:c.*14C>A (DDC)	ENSP00000393724.1:n.*14C>A
ENST00000613602.3:c.-11+47137C>A (FIGNL1)	ENSP00000481751.1:n.-11+47137C>A
ENST00000615193.4:c.634C>A (DDC)	ENSP00000484104.1:p.Leu212Ile
ENST00000617822.4:c.769C>A (DDC)	ENSP00000478385.1:p.Leu257Ile
ENST00000622873.4:c.799C>A (DDC)	ENSP00000479110.1:p.Leu267Ile
NM_000790.3:c.913C>A (DDC)	NP_000781.1:p.Leu305Ile
NM_001082971.1:c.913C>A (DDC)	NP_001076440.1:p.Leu305Ile
NM_001242886.1:c.799C>A (DDC)	NP_001229815.1:p.Leu267Ile
NM_001242887.1:c.769C>A (DDC)	NP_001229816.1:p.Leu257Ile
NM_001242888.1:c.679C>A (DDC)	NP_001229817.1:p.Leu227Ile
NM_001242889.1:c.634C>A (DDC)	NP_001229818.1:p.Leu212Ile
NM_001242890.1:c.913C>A (DDC)	NP_001229819.1:p.Leu305Ile
XM_005271745.3:c.799C>A (DDC)	XP_005271802.1:p.Leu267Ile
XM_011515161.1:c.562C>A (DDC)	XP_011513463.1:p.Leu188Ile
XM_005271745.4:c.799C>A (DDC)	XP_005271802.1:p.Leu267Ile
XM_011515161.2:c.856C>A (DDC)	XP_011513463.2:p.Leu286Ile
NM_001082971.2:c.913C>A (DDC) MANE Select	NP_001076440.2:p.Leu305Ile
NM_000790.4:c.913C>A (DDC)	NP_000781.2:p.Leu305Ile
NM_001242888.2:c.679C>A (DDC)	NP_001229817.2:p.Leu227Ile
NM_001242890.2:c.913C>A (DDC)	NP_001229819.2:p.Leu305Ile
NM_001242886.2:c.799C>A (DDC)	NP_001229815.2:p.Leu267Ile
NM_001242887.2:c.769C>A (DDC)	NP_001229816.2:p.Leu257Ile
NM_001242889.2:c.634C>A (DDC)	NP_001229818.2:p.Leu212Ile