Canonical Allele Identifier: CA3892555
Gene: COL12A1 HGNC NCBI
COSMIC:
COSM280029 (not active)
MyVariant.info:
GRCh38 chr6:g.75117424C>T
GRCh37 chr6:g.75827140C>T
Revel Score:
ENST00000322507 (MANE Select) 0.274
ENST00000425443 0.274
ENST00000432784 0.274
ENST00000345356 0.274
ENST00000416123 0.274
ENST00000483888 0.274
ENST00000493109 0.274
gnomAD v2:
6:75827140 C / T
gnomAD v3:
6:75117424 C / T
gnomAD v4:
chr6-75117424-C-T
Joint Max Group AF 0.00001064 (AFR)
Genomes Max Group AF 0.00001919 (AFR)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar RCV:
RCV000444377
RCV000652906
ClinVar Variation:
393184
dbSNP:
372985511
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75117424C>T , CM000668.2:g.75117424C>T GRCh38
NC_000006.11:g.75827140C>T , CM000668.1:g.75827140C>T GRCh37
NC_000006.10:g.75883860C>T NCBI36
NG_042181.1:g.93484G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322507.13:c.7477G>A MANE Select ENSP00000325146.8:p.Glu2493Lys
ENST00000322507.12:c.7477G>A ENSP00000325146.8:p.Glu2493Lys
ENST00000345356.10:c.3985G>A ENSP00000305147.9:p.Glu1329Lys
ENST00000416123.6:c.7477G>A ENSP00000412864.2:p.Glu2493Lys
ENST00000425443.6:c.391G>A ENSP00000399812.2:p.Glu131Lys
ENST00000483888.6:c.7477G>A ENSP00000421216.1:p.Glu2493Lys
ENST00000493109.2:c.139G>A ENSP00000423423.1:p.Glu47Lys
ENST00000615798.4:c.3910G>A ENSP00000483232.1:p.Glu1304Lys
NM_004370.5:c.7477G>A NP_004361.3:p.Glu2493Lys
NM_080645.2:c.3985G>A NP_542376.2:p.Glu1329Lys
XM_011535434.1:c.7477G>A XP_011533736.1:p.Glu2493Lys
XM_011535435.1:c.7204G>A XP_011533737.1:p.Glu2402Lys
XM_011535436.1:c.3985G>A XP_011533738.1:p.Glu1329Lys
XM_011535436.2:c.3985G>A XP_011533738.1:p.Glu1329Lys
XM_017010252.2:c.7441G>A XP_016865741.1:p.Glu2481Lys
NM_004370.6:c.7477G>A MANE Select NP_004361.3:p.Glu2493Lys
NM_080645.3:c.3985G>A NP_542376.2:p.Glu1329Lys
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