Canonical Allele Identifier: CA367538125

Gene: DDC FIGNL1

Linked Data

• MyVariant Identifiers: chr7:g.50563093T>A (hg19) ; chr7:g.50495395T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50495395T>A , CM000669.2:g.50495395T>A	GRCh38
NC_000007.13:g.50563093T>A , CM000669.1:g.50563093T>A	GRCh37
NC_000007.12:g.50530587T>A	NCBI36
NG_008742.1:g.75062A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000444124.7:c.899A>T (DDC) MANE Select	ENSP00000403644.2:p.Asn300Ile
ENST00000357936.9:c.899A>T (DDC)	ENSP00000350616.5:p.Asn300Ile
ENST00000380984.4:c.899A>T (DDC)	ENSP00000370371.4:p.Asn300Ile
ENST00000426377.5:c.665A>T (DDC)	ENSP00000395069.1:p.Asn222Ile
ENST00000430300.5:c.541A>T (DDC)
ENST00000431062.5:c.620A>T (DDC)	ENSP00000399184.1:p.Asn207Ile
ENST00000444124.6:c.899A>T (DDC)	ENSP00000403644.2:p.Asn300Ile
ENST00000444733.5:c.690A>T (DDC)	ENSP00000393724.1:p.Ter230Tyr
ENST00000613602.3:c.-11+47123A>T (FIGNL1)	ENSP00000481751.1:n.-11+47123A>T
ENST00000615193.4:c.620A>T (DDC)	ENSP00000484104.1:p.Asn207Ile
ENST00000617822.4:c.755A>T (DDC)	ENSP00000478385.1:p.Asn252Ile
ENST00000622873.4:c.785A>T (DDC)	ENSP00000479110.1:p.Asn262Ile
NM_000790.3:c.899A>T (DDC)	NP_000781.1:p.Asn300Ile
NM_001082971.1:c.899A>T (DDC)	NP_001076440.1:p.Asn300Ile
NM_001242886.1:c.785A>T (DDC)	NP_001229815.1:p.Asn262Ile
NM_001242887.1:c.755A>T (DDC)	NP_001229816.1:p.Asn252Ile
NM_001242888.1:c.665A>T (DDC)	NP_001229817.1:p.Asn222Ile
NM_001242889.1:c.620A>T (DDC)	NP_001229818.1:p.Asn207Ile
NM_001242890.1:c.899A>T (DDC)	NP_001229819.1:p.Asn300Ile
XM_005271745.3:c.785A>T (DDC)	XP_005271802.1:p.Asn262Ile
XM_011515161.1:c.548A>T (DDC)	XP_011513463.1:p.Asn183Ile
XM_005271745.4:c.785A>T (DDC)	XP_005271802.1:p.Asn262Ile
XM_011515161.2:c.842A>T (DDC)	XP_011513463.2:p.Asn281Ile
NM_001082971.2:c.899A>T (DDC) MANE Select	NP_001076440.2:p.Asn300Ile
NM_000790.4:c.899A>T (DDC)	NP_000781.2:p.Asn300Ile
NM_001242888.2:c.665A>T (DDC)	NP_001229817.2:p.Asn222Ile
NM_001242890.2:c.899A>T (DDC)	NP_001229819.2:p.Asn300Ile
NM_001242886.2:c.785A>T (DDC)	NP_001229815.2:p.Asn262Ile
NM_001242887.2:c.755A>T (DDC)	NP_001229816.2:p.Asn252Ile
NM_001242889.2:c.620A>T (DDC)	NP_001229818.2:p.Asn207Ile