Canonical Allele Identifier: CA367534700

Gene: DDC FIGNL1

Linked Data

• COSMIC: COSM3431677
• MyVariant Identifiers: chr7:g.50544323C>A (hg19) ; chr7:g.50476625C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50476625C>A , CM000669.2:g.50476625C>A	GRCh38
NC_000007.13:g.50544323C>A , CM000669.1:g.50544323C>A	GRCh37
NC_000007.12:g.50511817C>A	NCBI36
NG_008742.1:g.93832G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000444124.7:c.1040G>T (DDC) MANE Select	ENSP00000403644.2:p.Arg347Leu
ENST00000357936.9:c.1040G>T (DDC)	ENSP00000350616.5:p.Arg347Leu
ENST00000426377.5:c.806G>T (DDC)	ENSP00000395069.1:p.Arg269Leu
ENST00000430300.5:c.682G>T (DDC)
ENST00000431062.5:c.761G>T (DDC)	ENSP00000399184.1:p.Arg254Leu
ENST00000444124.6:c.1040G>T (DDC)	ENSP00000403644.2:p.Arg347Leu
ENST00000444733.5:c.*141G>T (DDC)	ENSP00000393724.1:n.*141G>T
ENST00000494914.1:n.196G>T (DDC)
ENST00000613602.3:c.-10-29328G>T (FIGNL1)	ENSP00000481751.1:n.-10-29328G>T
ENST00000615193.4:c.761G>T (DDC)	ENSP00000484104.1:p.Arg254Leu
ENST00000617822.4:c.896G>T (DDC)	ENSP00000478385.1:p.Arg299Leu
ENST00000622873.4:c.926G>T (DDC)	ENSP00000479110.1:p.Arg309Leu
NM_000790.3:c.1040G>T (DDC)	NP_000781.1:p.Arg347Leu
NM_001082971.1:c.1040G>T (DDC)	NP_001076440.1:p.Arg347Leu
NM_001242886.1:c.926G>T (DDC)	NP_001229815.1:p.Arg309Leu
NM_001242887.1:c.896G>T (DDC)	NP_001229816.1:p.Arg299Leu
NM_001242888.1:c.806G>T (DDC)	NP_001229817.1:p.Arg269Leu
NM_001242889.1:c.761G>T (DDC)	NP_001229818.1:p.Arg254Leu
XM_005271745.3:c.926G>T (DDC)	XP_005271802.1:p.Arg309Leu
XM_011515161.1:c.689G>T (DDC)	XP_011513463.1:p.Arg230Leu
XM_005271745.4:c.926G>T (DDC)	XP_005271802.1:p.Arg309Leu
XM_011515161.2:c.983G>T (DDC)	XP_011513463.2:p.Arg328Leu
NM_001082971.2:c.1040G>T (DDC) MANE Select	NP_001076440.2:p.Arg347Leu
NM_000790.4:c.1040G>T (DDC)	NP_000781.2:p.Arg347Leu
NM_001242888.2:c.806G>T (DDC)	NP_001229817.2:p.Arg269Leu
NM_001242886.2:c.926G>T (DDC)	NP_001229815.2:p.Arg309Leu
NM_001242887.2:c.896G>T (DDC)	NP_001229816.2:p.Arg299Leu
NM_001242889.2:c.761G>T (DDC)	NP_001229818.2:p.Arg254Leu