Canonical Allele Identifier: CA367526691

Gene: DDC FIGNL1

Linked Data

• gnomAD v4: 7-50529251-T-A
• MyVariant Identifiers: chr7:g.50596949T>A (hg19) ; chr7:g.50529251T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50529251T>A , CM000669.2:g.50529251T>A	GRCh38
NC_000007.13:g.50596949T>A , CM000669.1:g.50596949T>A	GRCh37
NC_000007.12:g.50564443T>A	NCBI36
NG_008742.1:g.41206A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000444124.7:c.527A>T (DDC) MANE Select	ENSP00000403644.2:p.Gln176Leu
ENST00000357936.9:c.527A>T (DDC)	ENSP00000350616.5:p.Gln176Leu
ENST00000380984.4:c.527A>T (DDC)	ENSP00000370371.4:p.Gln176Leu
ENST00000426377.5:c.293A>T (DDC)	ENSP00000395069.1:p.Gln98Leu
ENST00000430300.5:c.213-971A>T (DDC)
ENST00000431062.5:c.435+8609A>T (DDC)	ENSP00000399184.1:n.435+8609A>T
ENST00000444124.6:c.527A>T (DDC)	ENSP00000403644.2:p.Gln176Leu
ENST00000444733.5:c.413A>T (DDC)	ENSP00000393724.1:p.Gln138Leu
ENST00000489162.1:n.326A>T (DDC)
ENST00000613602.3:c.-11+13267A>T (FIGNL1)	ENSP00000481751.1:n.-11+13267A>T
ENST00000615193.4:c.435+8609A>T (DDC)	ENSP00000484104.1:n.435+8609A>T
ENST00000617822.4:c.527A>T (DDC)	ENSP00000478385.1:p.Gln176Leu
ENST00000622873.4:c.413A>T (DDC)	ENSP00000479110.1:p.Gln138Leu
NM_000790.3:c.527A>T (DDC)	NP_000781.1:p.Gln176Leu
NM_001082971.1:c.527A>T (DDC)	NP_001076440.1:p.Gln176Leu
NM_001242886.1:c.413A>T (DDC)	NP_001229815.1:p.Gln138Leu
NM_001242887.1:c.527A>T (DDC)	NP_001229816.1:p.Gln176Leu
NM_001242888.1:c.293A>T (DDC)	NP_001229817.1:p.Gln98Leu
NM_001242889.1:c.435+8609A>T (DDC)	NP_001229818.1:n.435+8609A>T
NM_001242890.1:c.527A>T (DDC)	NP_001229819.1:p.Gln176Leu
XM_005271745.3:c.413A>T (DDC)	XP_005271802.1:p.Gln138Leu
XM_011515161.1:c.176A>T (DDC)	XP_011513463.1:p.Gln59Leu
XM_005271745.4:c.413A>T (DDC)	XP_005271802.1:p.Gln138Leu
XM_011515161.2:c.470A>T (DDC)	XP_011513463.2:p.Gln157Leu
NM_001082971.2:c.527A>T (DDC) MANE Select	NP_001076440.2:p.Gln176Leu
NM_000790.4:c.527A>T (DDC)	NP_000781.2:p.Gln176Leu
NM_001242888.2:c.293A>T (DDC)	NP_001229817.2:p.Gln98Leu
NM_001242890.2:c.527A>T (DDC)	NP_001229819.2:p.Gln176Leu
NM_001242886.2:c.413A>T (DDC)	NP_001229815.2:p.Gln138Leu
NM_001242887.2:c.527A>T (DDC)	NP_001229816.2:p.Gln176Leu
NM_001242889.2:c.435+8609A>T (DDC)	NP_001229818.2:n.435+8609A>T