Canonical Allele Identifier: CA119116
Gene: NEUROD1 HGNC NCBI
CERKL HGNC NCBI

Linked Data

ClinVar Variation Id: 7853
ClinVar RCV Id: RCV000008303
dbSNP Id: rs104893649

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.181678529C>A , CM000664.2:g.181678529C>A GRCh38
NC_000002.11:g.182543256C>A , CM000664.1:g.182543256C>A GRCh37
NC_000002.10:g.182251501C>A NCBI36
NG_011820.1:g.7126G>T
NG_011820.2:g.7136G>T
NG_011820.3:g.6989G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000496876.2:n.398+1901G>T (NEUROD1)
ENST00000683166.1:n.91+1901G>T (NEUROD1)
ENST00000683430.1:c.332G>T (NEUROD1) ENSP00000506907.1:p.Arg111Leu
ENST00000684079.1:c.332G>T (NEUROD1) ENSP00000507492.1:p.Arg111Leu
ENST00000684145.1:c.-455+1901G>T (CERKL) ENSP00000508396.1:n.-455+1901G>T
ENST00000295108.4:c.332G>T (NEUROD1) MANE Select ENSP00000295108.3:p.Arg111Leu
ENST00000295108.3:c.332G>T (NEUROD1) ENSP00000295108.3:p.Arg111Leu
ENST00000479558.5:n.236+1901G>T (CERKL)
ENST00000496876.1:n.118+1901G>T (NEUROD1)
ENST00000497337.1:n.212+1901G>T (CERKL)
NM_002500.4:c.332G>T (NEUROD1) NP_002491.2:p.Arg111Leu
NR_146175.1:n.236+1901G>T (NEUROD1)
NR_146176.1:n.236+1901G>T (NEUROD1)
NR_146176.2:n.88+1901G>T (NEUROD1)
NM_002500.5:c.332G>T (NEUROD1) MANE Select NP_002491.3:p.Arg111Leu
NR_146175.2:n.88+1901G>T (NEUROD1)