Canonical Allele Identifier: CA367526702

Gene: DDC FIGNL1

Linked Data

• gnomAD v4: 7-50529257-A-G
• MyVariant Identifiers: chr7:g.50596955A>G (hg19) ; chr7:g.50529257A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50529257A>G , CM000669.2:g.50529257A>G	GRCh38
NC_000007.13:g.50596955A>G , CM000669.1:g.50596955A>G	GRCh37
NC_000007.12:g.50564449A>G	NCBI36
NG_008742.1:g.41200T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000444124.7:c.521T>C (DDC) MANE Select	ENSP00000403644.2:p.Leu174Pro
ENST00000357936.9:c.521T>C (DDC)	ENSP00000350616.5:p.Leu174Pro
ENST00000380984.4:c.521T>C (DDC)	ENSP00000370371.4:p.Leu174Pro
ENST00000426377.5:c.287T>C (DDC)	ENSP00000395069.1:p.Leu96Pro
ENST00000430300.5:c.213-977T>C (DDC)
ENST00000431062.5:c.435+8603T>C (DDC)	ENSP00000399184.1:n.435+8603T>C
ENST00000444124.6:c.521T>C (DDC)	ENSP00000403644.2:p.Leu174Pro
ENST00000444733.5:c.407T>C (DDC)	ENSP00000393724.1:p.Leu136Pro
ENST00000489162.1:n.320T>C (DDC)
ENST00000613602.3:c.-11+13261T>C (FIGNL1)	ENSP00000481751.1:n.-11+13261T>C
ENST00000615193.4:c.435+8603T>C (DDC)	ENSP00000484104.1:n.435+8603T>C
ENST00000617822.4:c.521T>C (DDC)	ENSP00000478385.1:p.Leu174Pro
ENST00000622873.4:c.407T>C (DDC)	ENSP00000479110.1:p.Leu136Pro
NM_000790.3:c.521T>C (DDC)	NP_000781.1:p.Leu174Pro
NM_001082971.1:c.521T>C (DDC)	NP_001076440.1:p.Leu174Pro
NM_001242886.1:c.407T>C (DDC)	NP_001229815.1:p.Leu136Pro
NM_001242887.1:c.521T>C (DDC)	NP_001229816.1:p.Leu174Pro
NM_001242888.1:c.287T>C (DDC)	NP_001229817.1:p.Leu96Pro
NM_001242889.1:c.435+8603T>C (DDC)	NP_001229818.1:n.435+8603T>C
NM_001242890.1:c.521T>C (DDC)	NP_001229819.1:p.Leu174Pro
XM_005271745.3:c.407T>C (DDC)	XP_005271802.1:p.Leu136Pro
XM_011515161.1:c.170T>C (DDC)	XP_011513463.1:p.Leu57Pro
XM_005271745.4:c.407T>C (DDC)	XP_005271802.1:p.Leu136Pro
XM_011515161.2:c.464T>C (DDC)	XP_011513463.2:p.Leu155Pro
NM_001082971.2:c.521T>C (DDC) MANE Select	NP_001076440.2:p.Leu174Pro
NM_000790.4:c.521T>C (DDC)	NP_000781.2:p.Leu174Pro
NM_001242888.2:c.287T>C (DDC)	NP_001229817.2:p.Leu96Pro
NM_001242890.2:c.521T>C (DDC)	NP_001229819.2:p.Leu174Pro
NM_001242886.2:c.407T>C (DDC)	NP_001229815.2:p.Leu136Pro
NM_001242887.2:c.521T>C (DDC)	NP_001229816.2:p.Leu174Pro
NM_001242889.2:c.435+8603T>C (DDC)	NP_001229818.2:n.435+8603T>C