Canonical Allele Identifier: CA367533529

Gene: DDC FIGNL1

Linked Data

• MyVariant Identifiers: chr7:g.50537840A>C (hg19) ; chr7:g.50470142A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50470142A>C , CM000669.2:g.50470142A>C	GRCh38
NC_000007.13:g.50537840A>C , CM000669.1:g.50537840A>C	GRCh37
NC_000007.12:g.50505334A>C	NCBI36
NG_008742.1:g.100315T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000444124.7:c.1071T>G (DDC) MANE Select	ENSP00000403644.2:p.Phe357Leu
ENST00000357936.9:c.1071T>G (DDC)	ENSP00000350616.5:p.Phe357Leu
ENST00000426377.5:c.837T>G (DDC)	ENSP00000395069.1:p.Phe279Leu
ENST00000430300.5:c.713T>G (DDC)
ENST00000431062.5:c.792T>G (DDC)	ENSP00000399184.1:p.Phe264Leu
ENST00000444124.6:c.1071T>G (DDC)	ENSP00000403644.2:p.Phe357Leu
ENST00000444733.5:c.*172T>G (DDC)	ENSP00000393724.1:n.*172T>G
ENST00000494914.1:n.227T>G (DDC)
ENST00000613602.3:c.-10-22845T>G (FIGNL1)	ENSP00000481751.1:n.-10-22845T>G
ENST00000615193.4:c.792T>G (DDC)	ENSP00000484104.1:p.Phe264Leu
ENST00000617822.4:c.927T>G (DDC)	ENSP00000478385.1:p.Phe309Leu
ENST00000622873.4:c.957T>G (DDC)	ENSP00000479110.1:p.Phe319Leu
NM_000790.3:c.1071T>G (DDC)	NP_000781.1:p.Phe357Leu
NM_001082971.1:c.1071T>G (DDC)	NP_001076440.1:p.Phe357Leu
NM_001242886.1:c.957T>G (DDC)	NP_001229815.1:p.Phe319Leu
NM_001242887.1:c.927T>G (DDC)	NP_001229816.1:p.Phe309Leu
NM_001242888.1:c.837T>G (DDC)	NP_001229817.1:p.Phe279Leu
NM_001242889.1:c.792T>G (DDC)	NP_001229818.1:p.Phe264Leu
XM_005271745.3:c.957T>G (DDC)	XP_005271802.1:p.Phe319Leu
XM_011515161.1:c.720T>G (DDC)	XP_011513463.1:p.Phe240Leu
XM_005271745.4:c.957T>G (DDC)	XP_005271802.1:p.Phe319Leu
XM_011515161.2:c.1014T>G (DDC)	XP_011513463.2:p.Phe338Leu
NM_001082971.2:c.1071T>G (DDC) MANE Select	NP_001076440.2:p.Phe357Leu
NM_000790.4:c.1071T>G (DDC)	NP_000781.2:p.Phe357Leu
NM_001242888.2:c.837T>G (DDC)	NP_001229817.2:p.Phe279Leu
NM_001242886.2:c.957T>G (DDC)	NP_001229815.2:p.Phe319Leu
NM_001242887.2:c.927T>G (DDC)	NP_001229816.2:p.Phe309Leu
NM_001242889.2:c.792T>G (DDC)	NP_001229818.2:p.Phe264Leu