Canonical Allele Identifier: CA3892007
Gene: COL12A1 HGNC NCBI
COSMIC:
COSM150125 (not active)
MyVariant.info:
GRCh38 chr6:g.75087586C>T
GRCh37 chr6:g.75797302C>T
Revel Score:
ENST00000322507 (MANE Select) 0.453
ENST00000425443 0.453
ENST00000432784 0.453
ENST00000345356 0.453
ENST00000416123 0.453
ENST00000483888 0.453
gnomAD v2:
6:75797302 C / T
gnomAD v3:
6:75087586 C / T
gnomAD v4:
chr6-75087586-C-T
Joint Max Group AF 0.80427164 (AMR)
Genomes Max Group AF 0.77189472 (NFE)
Exomes Max Group AF 0.819011 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75087586C>T , CM000668.2:g.75087586C>T GRCh38
NC_000006.11:g.75797302C>T , CM000668.1:g.75797302C>T GRCh37
NC_000006.10:g.75854022C>T NCBI36
NG_042181.1:g.123322G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322507.13:c.9172G>A MANE Select ENSP00000325146.8:p.Gly3058Ser
ENST00000680981.1:n.581G>A
ENST00000681086.1:n.955G>A
ENST00000322507.12:c.9172G>A ENSP00000325146.8:p.Gly3058Ser
ENST00000345356.10:c.5680G>A ENSP00000305147.9:p.Gly1894Ser
ENST00000416123.6:c.8944G>A ENSP00000412864.2:p.Gly2982Ser
ENST00000425443.6:c.2086G>A ENSP00000399812.2:p.Gly696Ser
ENST00000483888.6:c.9160G>A ENSP00000421216.1:p.Gly3054Ser
ENST00000615798.4:c.5605G>A ENSP00000483232.1:p.Gly1869Ser
NM_004370.5:c.9172G>A NP_004361.3:p.Gly3058Ser
NM_080645.2:c.5680G>A NP_542376.2:p.Gly1894Ser
XM_011535434.1:c.9172G>A XP_011533736.1:p.Gly3058Ser
XM_011535435.1:c.8899G>A XP_011533737.1:p.Gly2967Ser
XM_011535436.1:c.5680G>A XP_011533738.1:p.Gly1894Ser
XM_011535436.2:c.5680G>A XP_011533738.1:p.Gly1894Ser
XM_017010252.2:c.9136G>A XP_016865741.1:p.Gly3046Ser
NM_004370.6:c.9172G>A MANE Select NP_004361.3:p.Gly3058Ser
NM_080645.3:c.5680G>A NP_542376.2:p.Gly1894Ser
Search 100 bp 5'
Search 100 bp 3'