Canonical Allele Identifier: CA3298742
Gene: MAP1B HGNC NCBI
ClinVar RCV:
RCV003448826
ClinVar Variation:
2671742
dbSNP:
759510208
gnomAD v2:
5:71490990 C / A
gnomAD v4:
chr5-72195163-C-A
Joint Max Group AF 0.00004371 (SAS)
Exomes Max Group AF 0.00004582 (SAS)
MyVariant.info:
GRCh38 chr5:g.72195163C>A
GRCh37 chr5:g.71490990C>A
Revel Score:
ENST00000296755 (MANE Select) 0.056
ENST00000511641 0.056
ENST00000504492 0.056
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.72195163C>A , CM000667.2:g.72195163C>A GRCh38
NC_000005.9:g.71490990C>A , CM000667.1:g.71490990C>A GRCh37
NC_000005.8:g.71526746C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296755.12:c.1808C>A MANE Select ENSP00000296755.7:p.Thr603Asn
ENST00000296755.11:c.1808C>A ENSP00000296755.7:p.Thr603Asn
ENST00000504492.1:c.1430C>A ENSP00000423416.1:p.Thr477Asn
ENST00000511641.2:c.1859C>A ENSP00000423444.2:p.Thr620Asn
ENST00000513526.6:c.*1528C>A ENSP00000427194.2:n.*1528C>A
NM_005909.3:c.1808C>A NP_005900.2:p.Thr603Asn
XM_005248507.2:c.1430C>A XP_005248564.1:p.Thr477Asn
NM_001324255.1:c.1430C>A NP_001311184.1:p.Thr477Asn
NM_005909.4:c.1808C>A NP_005900.2:p.Thr603Asn
NM_005909.5:c.1808C>A MANE Select NP_005900.2:p.Thr603Asn
NM_001324255.2:c.1430C>A NP_001311184.1:p.Thr477Asn
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