Canonical Allele Identifier: CA367538190

Gene: DDC FIGNL1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50499146A>C , CM000669.2:g.50499146A>C	GRCh38
NC_000007.13:g.50566844A>C , CM000669.1:g.50566844A>C	GRCh37
NC_000007.12:g.50534338A>C	NCBI36
NG_008742.1:g.71311T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001082971.2:c.876+2T>G (DDC) MANE Select	NP_001076440.2:n.876+2T>G
ENST00000444124.7:c.876+2T>G (DDC) MANE Select	ENSP00000403644.2:n.876+2T>G
NM_000790.3:c.876+2T>G (DDC)	NP_000781.1:n.876+2T>G
NM_000790.4:c.876+2T>G (DDC)	NP_000781.2:n.876+2T>G
NM_001082971.1:c.876+2T>G (DDC)	NP_001076440.1:n.876+2T>G
NM_001242886.1:c.762+2T>G (DDC)	NP_001229815.1:n.762+2T>G
NM_001242886.2:c.762+2T>G (DDC)	NP_001229815.2:n.762+2T>G
NM_001242887.1:c.732+2T>G (DDC)	NP_001229816.1:n.732+2T>G
NM_001242887.2:c.732+2T>G (DDC)	NP_001229816.2:n.732+2T>G
NM_001242888.1:c.642+2T>G (DDC)	NP_001229817.1:n.642+2T>G
NM_001242888.2:c.642+2T>G (DDC)	NP_001229817.2:n.642+2T>G
NM_001242889.1:c.597+2T>G (DDC)	NP_001229818.1:n.597+2T>G
NM_001242889.2:c.597+2T>G (DDC)	NP_001229818.2:n.597+2T>G
NM_001242890.1:c.876+2T>G (DDC)	NP_001229819.1:n.876+2T>G
NM_001242890.2:c.876+2T>G (DDC)	NP_001229819.2:n.876+2T>G
ENST00000357936.9:c.876+2T>G (DDC)	ENSP00000350616.5:n.876+2T>G
ENST00000380984.4:c.876+2T>G (DDC)	ENSP00000370371.4:n.876+2T>G
ENST00000426377.5:c.642+2T>G (DDC)	ENSP00000395069.1:n.642+2T>G
ENST00000430300.5:c.518+2T>G (DDC)
ENST00000431062.5:c.597+2T>G (DDC)	ENSP00000399184.1:n.597+2T>G
ENST00000444124.6:c.876+2T>G (DDC)	ENSP00000403644.2:n.876+2T>G
ENST00000444733.5:c.668-3729T>G (DDC)	ENSP00000393724.1:n.668-3729T>G
ENST00000613602.3:c.-11+43372T>G (FIGNL1)	ENSP00000481751.1:n.-11+43372T>G
ENST00000615193.4:c.597+2T>G (DDC)	ENSP00000484104.1:n.597+2T>G
ENST00000617822.4:c.732+2T>G (DDC)	ENSP00000478385.1:n.732+2T>G
ENST00000622873.4:c.762+2T>G (DDC)	ENSP00000479110.1:n.762+2T>G
XM_005271745.3:c.762+2T>G (DDC)	XP_005271802.1:n.762+2T>G
XM_005271745.4:c.762+2T>G (DDC)	XP_005271802.1:n.762+2T>G
XM_011515161.1:c.525+2T>G (DDC)	XP_011513463.1:n.525+2T>G
XM_011515161.2:c.819+2T>G (DDC)	XP_011513463.2:n.819+2T>G