Canonical Allele Identifier: CA7265555
Gene: BBOF1 HGNC NCBI
ALDH6A1 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.74060599G>C
GRCh37 chr14:g.74527302G>C
gnomAD v2:
14:74527302 G / C
gnomAD v3:
14:74060599 G / C
gnomAD v4:
chr14-74060599-G-C
Joint Max Group AF 0.00202415 (SAS)
Genomes Max Group AF 0.00291191 (SAS)
Exomes Max Group AF 0.00190135 (SAS)
ClinVar RCV:
RCV000325897
ClinVar Variation:
314167
dbSNP:
545399557
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74060599G>C , CM000676.2:g.74060599G>C GRCh38
NC_000014.8:g.74527302G>C , CM000676.1:g.74527302G>C GRCh37
NC_000014.7:g.73597055G>C NCBI36
NG_012257.2:g.28895C>G
NG_033060.1:g.46244G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394009.5:c.1578+3341G>C (BBOF1) MANE Select ENSP00000377577.3:n.1578+3341G>C
ENST00000553458.6:c.*43C>G (ALDH6A1) MANE Select ENSP00000450436.1:n.*43C>G
ENST00000350259.8:c.*43C>G (ALDH6A1) ENSP00000342564.4:n.*43C>G
ENST00000394009.4:c.1578+3341G>C (BBOF1) ENSP00000377577.3:n.1578+3341G>C
ENST00000492026.4:n.1379+3341G>C (BBOF1)
ENST00000553458.5:c.*43C>G (ALDH6A1) ENSP00000450436.1:n.*43C>G
ENST00000554501.5:n.1869C>G (ALDH6A1)
ENST00000555126.1:c.*43C>G (ALDH6A1) ENSP00000452081.1:n.*43C>G
NM_001278593.1:c.*43C>G (ALDH6A1) NP_001265522.1:n.*43C>G
NM_001278594.1:c.*43C>G (ALDH6A1) NP_001265523.1:n.*43C>G
NM_005589.3:c.*43C>G (ALDH6A1) NP_005580.1:n.*43C>G
NM_025057.2:c.1578+3341G>C (BBOF1) NP_079333.2:n.1578+3341G>C
XM_011537171.1:c.1693+3334G>C (BBOF1) XP_011535473.1:n.1693+3334G>C
XM_011537172.1:c.1686+3341G>C (BBOF1) XP_011535474.1:n.1686+3341G>C
XM_011537173.1:c.1693+3334G>C (BBOF1) XP_011535475.1:n.1693+3334G>C
XM_011537174.1:c.1686+3341G>C (BBOF1) XP_011535476.1:n.1686+3341G>C
XM_011537171.2:c.1693+3334G>C (BBOF1) XP_011535473.1:n.1693+3334G>C
XM_011537174.2:c.1686+3341G>C (BBOF1) XP_011535476.1:n.1686+3341G>C
XM_017021331.2:c.*43C>G (ALDH6A1) XP_016876820.1:n.*43C>G
XM_017021659.1:c.1578+3341G>C (BBOF1) XP_016877148.1:n.1578+3341G>C
XM_017021660.1:c.1165+3334G>C (BBOF1) XP_016877149.1:n.1165+3334G>C
XM_017021661.1:c.1158+3341G>C (BBOF1) XP_016877150.1:n.1158+3341G>C
XM_017021662.1:c.966+3341G>C (BBOF1) XP_016877151.1:n.966+3341G>C
XM_017021663.1:c.939+3341G>C (BBOF1) XP_016877152.1:n.939+3341G>C
NM_025057.3:c.1578+3341G>C (BBOF1) MANE Select NP_079333.2:n.1578+3341G>C
NM_001278593.2:c.*43C>G (ALDH6A1) NP_001265522.1:n.*43C>G
NM_001278594.2:c.*43C>G (ALDH6A1) NP_001265523.1:n.*43C>G
NM_005589.4:c.*43C>G (ALDH6A1) MANE Select NP_005580.1:n.*43C>G
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