Canonical Allele Identifier: CA3893741
Gene: COL12A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.75155722C>T
GRCh37 chr6:g.75865438C>T
Revel Score:
ENST00000322507 (MANE Select) 0.104
ENST00000432784 0.104
ENST00000416123 0.104
ENST00000483888 0.104
gnomAD v2:
6:75865438 C / T
gnomAD v3:
6:75155722 C / T
gnomAD v4:
chr6-75155722-C-T
Joint Max Group AF 0.00044303 (EAS)
Genomes Max Group AF 0.00006816 (EAS)
Exomes Max Group AF 0.00045899 (EAS)
ClinVar Allele:
443994
ClinVar RCV:
RCV000518879
RCV000802768
RCV002527638
ClinVar Variation:
452138
dbSNP:
373637483
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75155722C>T , CM000668.2:g.75155722C>T GRCh38
NC_000006.11:g.75865438C>T , CM000668.1:g.75865438C>T GRCh37
NC_000006.10:g.75922158C>T NCBI36
NG_042181.1:g.55186G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322507.13:c.3383G>A MANE Select ENSP00000325146.8:p.Arg1128Lys
ENST00000322507.12:c.3383G>A ENSP00000325146.8:p.Arg1128Lys
ENST00000345356.10:c.74-3240G>A ENSP00000305147.9:n.74-3240G>A
ENST00000416123.6:c.3383G>A ENSP00000412864.2:p.Arg1128Lys
ENST00000483888.6:c.3383G>A ENSP00000421216.1:p.Arg1128Lys
ENST00000615798.4:c.-185G>A ENSP00000483232.1:n.-185G>A
NM_004370.5:c.3383G>A NP_004361.3:p.Arg1128Lys
NM_080645.2:c.74-3240G>A NP_542376.2:n.74-3240G>A
XM_011535434.1:c.3383G>A XP_011533736.1:p.Arg1128Lys
XM_011535435.1:c.3110G>A XP_011533737.1:p.Arg1037Lys
XM_011535436.1:c.74-3240G>A XP_011533738.1:n.74-3240G>A
XM_011535436.2:c.74-3240G>A XP_011533738.1:n.74-3240G>A
XM_017010252.2:c.3347G>A XP_016865741.1:p.Arg1116Lys
NM_004370.6:c.3383G>A MANE Select NP_004361.3:p.Arg1128Lys
NM_080645.3:c.74-3240G>A NP_542376.2:n.74-3240G>A
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