Canonical Allele Identifier: CA384151026
Gene: BHLHE41 HGNC NCBI
SSPN HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.26122364G>A
GRCh37 chr12:g.26275297G>A
Revel Score:
ENST00000242728 (MANE Select) 0.548
gnomAD v2:
12:26275297 G / A
gnomAD v3:
12:26122364 G / A
gnomAD v4:
chr12-26122364-G-A
Joint Max Group AF 0.00000154 (NFE)
Genomes Max Group AF 0.00001202 (NFE)
Exomes Max Group AF 3.8e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.26122364G>A , CM000674.2:g.26122364G>A GRCh38
NC_000012.11:g.26275297G>A , CM000674.1:g.26275297G>A GRCh37
NC_000012.10:g.26166564G>A NCBI36
NG_012011.2:g.5374G>A , LRG_209:g.5374G>A
NG_021173.1:g.7707C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242728.5:c.1151C>T (BHLHE41) MANE Select ENSP00000242728.4:p.Pro384Leu
ENST00000242728.4:c.1151C>T (BHLHE41) ENSP00000242728.4:p.Pro384Leu
ENST00000534829.5:n.101+212G>A (SSPN)
ENST00000538142.5:c.-31+212G>A (SSPN) ENSP00000445360.1:n.-31+212G>A
NM_030762.2:c.1151C>T (BHLHE41) NP_110389.1:p.Pro384Leu
XM_011520853.1:c.-31+212G>A (SSPN) XP_011519155.1:n.-31+212G>A
XM_011520853.3:c.-31+212G>A (SSPN) XP_011519155.1:n.-31+212G>A
NM_030762.3:c.1151C>T (BHLHE41) MANE Select NP_110389.1:p.Pro384Leu
Search 100 bp 5'
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