Canonical Allele Identifier: CA4261968

Gene: DDC FIGNL1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50463254C>T , CM000669.2:g.50463254C>T	GRCh38
NC_000007.13:g.50530952C>T , CM000669.1:g.50530952C>T	GRCh37
NC_000007.12:g.50498446C>T	NCBI36
NG_008742.1:g.107203G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001082971.2:c.1420G>A (DDC) MANE Select	NP_001076440.2:p.Val474Met
ENST00000444124.7:c.1420G>A (DDC) MANE Select	ENSP00000403644.2:p.Val474Met
NM_000790.3:c.1420G>A (DDC)	NP_000781.1:p.Val474Met
NM_000790.4:c.1420G>A (DDC)	NP_000781.2:p.Val474Met
NM_001082971.1:c.1420G>A (DDC)	NP_001076440.1:p.Val474Met
NM_001242886.1:c.1306G>A (DDC)	NP_001229815.1:p.Val436Met
NM_001242886.2:c.1306G>A (DDC)	NP_001229815.2:p.Val436Met
NM_001242887.1:c.1276G>A (DDC)	NP_001229816.1:p.Val426Met
NM_001242887.2:c.1276G>A (DDC)	NP_001229816.2:p.Val426Met
NM_001242888.1:c.1186G>A (DDC)	NP_001229817.1:p.Val396Met
NM_001242888.2:c.1186G>A (DDC)	NP_001229817.2:p.Val396Met
NM_001242889.1:c.1141G>A (DDC)	NP_001229818.1:p.Val381Met
NM_001242889.2:c.1141G>A (DDC)	NP_001229818.2:p.Val381Met
ENST00000357936.9:c.1420G>A (DDC)	ENSP00000350616.5:p.Val474Met
ENST00000426377.5:c.1186G>A (DDC)	ENSP00000395069.1:p.Val396Met
ENST00000430300.5:c.1062G>A (DDC)
ENST00000431062.5:c.1141G>A (DDC)	ENSP00000399184.1:p.Val381Met
ENST00000444124.6:c.1420G>A (DDC)	ENSP00000403644.2:p.Val474Met
ENST00000444733.5:c.*521G>A (DDC)	ENSP00000393724.1:n.*521G>A
ENST00000494914.1:n.576G>A (DDC)
ENST00000613602.3:c.-10-15957G>A (FIGNL1)	ENSP00000481751.1:n.-10-15957G>A
ENST00000615193.4:c.1141G>A (DDC)	ENSP00000484104.1:p.Val381Met
ENST00000617822.4:c.1276G>A (DDC)	ENSP00000478385.1:p.Val426Met
ENST00000622873.4:c.1306G>A (DDC)	ENSP00000479110.1:p.Val436Met
XM_005271745.3:c.1306G>A (DDC)	XP_005271802.1:p.Val436Met
XM_005271745.4:c.1306G>A (DDC)	XP_005271802.1:p.Val436Met
XM_011515161.1:c.1069G>A (DDC)	XP_011513463.1:p.Val357Met
XM_011515161.2:c.1363G>A (DDC)	XP_011513463.2:p.Val455Met