Canonical Allele Identifier: CA367534748

Gene: DDC FIGNL1

Linked Data

• MyVariant Identifiers: chr7:g.50544333T>C (hg19) ; chr7:g.50476635T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50476635T>C , CM000669.2:g.50476635T>C	GRCh38
NC_000007.13:g.50544333T>C , CM000669.1:g.50544333T>C	GRCh37
NC_000007.12:g.50511827T>C	NCBI36
NG_008742.1:g.93822A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000444124.7:c.1030A>G (DDC) MANE Select	ENSP00000403644.2:p.Thr344Ala
ENST00000357936.9:c.1030A>G (DDC)	ENSP00000350616.5:p.Thr344Ala
ENST00000426377.5:c.796A>G (DDC)	ENSP00000395069.1:p.Thr266Ala
ENST00000430300.5:c.672A>G (DDC)
ENST00000431062.5:c.751A>G (DDC)	ENSP00000399184.1:p.Thr251Ala
ENST00000444124.6:c.1030A>G (DDC)	ENSP00000403644.2:p.Thr344Ala
ENST00000444733.5:c.*131A>G (DDC)	ENSP00000393724.1:n.*131A>G
ENST00000494914.1:n.186A>G (DDC)
ENST00000613602.3:c.-10-29338A>G (FIGNL1)	ENSP00000481751.1:n.-10-29338A>G
ENST00000615193.4:c.751A>G (DDC)	ENSP00000484104.1:p.Thr251Ala
ENST00000617822.4:c.886A>G (DDC)	ENSP00000478385.1:p.Thr296Ala
ENST00000622873.4:c.916A>G (DDC)	ENSP00000479110.1:p.Thr306Ala
NM_000790.3:c.1030A>G (DDC)	NP_000781.1:p.Thr344Ala
NM_001082971.1:c.1030A>G (DDC)	NP_001076440.1:p.Thr344Ala
NM_001242886.1:c.916A>G (DDC)	NP_001229815.1:p.Thr306Ala
NM_001242887.1:c.886A>G (DDC)	NP_001229816.1:p.Thr296Ala
NM_001242888.1:c.796A>G (DDC)	NP_001229817.1:p.Thr266Ala
NM_001242889.1:c.751A>G (DDC)	NP_001229818.1:p.Thr251Ala
XM_005271745.3:c.916A>G (DDC)	XP_005271802.1:p.Thr306Ala
XM_011515161.1:c.679A>G (DDC)	XP_011513463.1:p.Thr227Ala
XM_005271745.4:c.916A>G (DDC)	XP_005271802.1:p.Thr306Ala
XM_011515161.2:c.973A>G (DDC)	XP_011513463.2:p.Thr325Ala
NM_001082971.2:c.1030A>G (DDC) MANE Select	NP_001076440.2:p.Thr344Ala
NM_000790.4:c.1030A>G (DDC)	NP_000781.2:p.Thr344Ala
NM_001242888.2:c.796A>G (DDC)	NP_001229817.2:p.Thr266Ala
NM_001242886.2:c.916A>G (DDC)	NP_001229815.2:p.Thr306Ala
NM_001242887.2:c.886A>G (DDC)	NP_001229816.2:p.Thr296Ala
NM_001242889.2:c.751A>G (DDC)	NP_001229818.2:p.Thr251Ala