Canonical Allele Identifier: CA2011184

Gene: NEUROD1 CERKL

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181678732G>C , CM000664.2:g.181678732G>C	GRCh38
NC_000002.11:g.182543459G>C , CM000664.1:g.182543459G>C	GRCh37
NC_000002.10:g.182251704G>C	NCBI36
NG_011820.1:g.6923C>G
NG_011820.2:g.6933C>G
NG_011820.3:g.6786C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002500.5:c.129C>G (NEUROD1) MANE Select	NP_002491.3:p.Leu43=
ENST00000295108.4:c.129C>G (NEUROD1) MANE Select	ENSP00000295108.3:p.Leu43=
NM_002500.4:c.129C>G (NEUROD1)	NP_002491.2:p.Leu43=
NR_146175.1:n.236+1698C>G (NEUROD1)
NR_146175.2:n.88+1698C>G (NEUROD1)
NR_146176.1:n.236+1698C>G (NEUROD1)
NR_146176.2:n.88+1698C>G (NEUROD1)
ENST00000295108.3:c.129C>G (NEUROD1)	ENSP00000295108.3:p.Leu43=
ENST00000479558.5:n.236+1698C>G (CERKL)
ENST00000496876.1:n.118+1698C>G (NEUROD1)
ENST00000496876.2:n.398+1698C>G (NEUROD1)
ENST00000497337.1:n.212+1698C>G (CERKL)
ENST00000683166.1:n.91+1698C>G (NEUROD1)
ENST00000683430.1:c.129C>G (NEUROD1)	ENSP00000506907.1:p.Leu43=
ENST00000684079.1:c.129C>G (NEUROD1)	ENSP00000507492.1:p.Leu43=
ENST00000684145.1:c.-455+1698C>G (CERKL)	ENSP00000508396.1:n.-455+1698C>G