Canonical Allele Identifier: CA120032087

Gene: MAP1B

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.72194250C>T , CM000667.2:g.72194250C>T	GRCh38
NC_000005.9:g.71490077C>T , CM000667.1:g.71490077C>T	GRCh37
NC_000005.8:g.71525833C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005909.5:c.895C>T MANE Select	NP_005900.2:p.Arg299Ter
ENST00000296755.12:c.895C>T MANE Select	ENSP00000296755.7:p.Arg299Ter
NM_001324255.1:c.517C>T	NP_001311184.1:p.Arg173Ter
NM_001324255.2:c.517C>T	NP_001311184.1:p.Arg173Ter
NM_005909.3:c.895C>T	NP_005900.2:p.Arg299Ter
NM_005909.4:c.895C>T	NP_005900.2:p.Arg299Ter
ENST00000296755.11:c.895C>T	ENSP00000296755.7:p.Arg299Ter
ENST00000504492.1:c.517C>T	ENSP00000423416.1:p.Arg173Ter
ENST00000511641.2:c.946C>T	ENSP00000423444.2:p.Arg316Ter
ENST00000513526.6:c.*615C>T	ENSP00000427194.2:n.*615C>T
XM_005248507.2:c.517C>T	XP_005248564.1:p.Arg173Ter