Canonical Allele Identifier: CA367534749

Gene: DDC FIGNL1

Linked Data

• dbSNP Id: rs2042652261
• MyVariant Identifiers: chr7:g.50544333T>G (hg19) ; chr7:g.50476635T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000444124.7:c.1030A>C (DDC) MANE Select	ENSP00000403644.2:p.Thr344Pro
ENST00000357936.9:c.1030A>C (DDC)	ENSP00000350616.5:p.Thr344Pro
ENST00000426377.5:c.796A>C (DDC)	ENSP00000395069.1:p.Thr266Pro
ENST00000430300.5:c.672A>C (DDC)
ENST00000431062.5:c.751A>C (DDC)	ENSP00000399184.1:p.Thr251Pro
ENST00000444124.6:c.1030A>C (DDC)	ENSP00000403644.2:p.Thr344Pro
ENST00000444733.5:c.*131A>C (DDC)	ENSP00000393724.1:n.*131A>C
ENST00000494914.1:n.186A>C (DDC)
ENST00000613602.3:c.-10-29338A>C (FIGNL1)	ENSP00000481751.1:n.-10-29338A>C
ENST00000615193.4:c.751A>C (DDC)	ENSP00000484104.1:p.Thr251Pro
ENST00000617822.4:c.886A>C (DDC)	ENSP00000478385.1:p.Thr296Pro
ENST00000622873.4:c.916A>C (DDC)	ENSP00000479110.1:p.Thr306Pro
NM_000790.3:c.1030A>C (DDC)	NP_000781.1:p.Thr344Pro
NM_001082971.1:c.1030A>C (DDC)	NP_001076440.1:p.Thr344Pro
NM_001242886.1:c.916A>C (DDC)	NP_001229815.1:p.Thr306Pro
NM_001242887.1:c.886A>C (DDC)	NP_001229816.1:p.Thr296Pro
NM_001242888.1:c.796A>C (DDC)	NP_001229817.1:p.Thr266Pro
NM_001242889.1:c.751A>C (DDC)	NP_001229818.1:p.Thr251Pro
XM_005271745.3:c.916A>C (DDC)	XP_005271802.1:p.Thr306Pro
XM_011515161.1:c.679A>C (DDC)	XP_011513463.1:p.Thr227Pro
XM_005271745.4:c.916A>C (DDC)	XP_005271802.1:p.Thr306Pro
XM_011515161.2:c.973A>C (DDC)	XP_011513463.2:p.Thr325Pro
NM_001082971.2:c.1030A>C (DDC) MANE Select	NP_001076440.2:p.Thr344Pro
NM_000790.4:c.1030A>C (DDC)	NP_000781.2:p.Thr344Pro
NM_001242888.2:c.796A>C (DDC)	NP_001229817.2:p.Thr266Pro
NM_001242886.2:c.916A>C (DDC)	NP_001229815.2:p.Thr306Pro
NM_001242887.2:c.886A>C (DDC)	NP_001229816.2:p.Thr296Pro
NM_001242889.2:c.751A>C (DDC)	NP_001229818.2:p.Thr251Pro