Canonical Allele Identifier: CA3893785
Gene: COL12A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.75156305T>C
GRCh37 chr6:g.75866021T>C
Revel Score:
ENST00000322507 (MANE Select) 0.044
ENST00000432784 0.044
ENST00000416123 0.044
ENST00000483888 0.044
gnomAD v2:
6:75866021 T / C
gnomAD v3:
6:75156305 T / C
gnomAD v4:
chr6-75156305-T-C
Joint Max Group AF 0.00167798 (AMR)
Genomes Max Group AF 0.00203011 (AMR)
Exomes Max Group AF 0.00141179 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75156305T>C , CM000668.2:g.75156305T>C GRCh38
NC_000006.11:g.75866021T>C , CM000668.1:g.75866021T>C GRCh37
NC_000006.10:g.75922741T>C NCBI36
NG_042181.1:g.54603A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000322507.13:c.3202A>G MANE Select ENSP00000325146.8:p.Ile1068Val
ENST00000322507.12:c.3202A>G ENSP00000325146.8:p.Ile1068Val
ENST00000345356.10:c.74-3823A>G ENSP00000305147.9:n.74-3823A>G
ENST00000416123.6:c.3202A>G ENSP00000412864.2:p.Ile1068Val
ENST00000483888.6:c.3202A>G ENSP00000421216.1:p.Ile1068Val
ENST00000615798.4:c.-366A>G ENSP00000483232.1:n.-366A>G
NM_004370.5:c.3202A>G NP_004361.3:p.Ile1068Val
NM_080645.2:c.74-3823A>G NP_542376.2:n.74-3823A>G
XM_011535434.1:c.3202A>G XP_011533736.1:p.Ile1068Val
XM_011535435.1:c.2929A>G XP_011533737.1:p.Ile977Val
XM_011535436.1:c.74-3823A>G XP_011533738.1:n.74-3823A>G
XM_011535436.2:c.74-3823A>G XP_011533738.1:n.74-3823A>G
XM_017010252.2:c.3166A>G XP_016865741.1:p.Ile1056Val
NM_004370.6:c.3202A>G MANE Select NP_004361.3:p.Ile1068Val
NM_080645.3:c.74-3823A>G NP_542376.2:n.74-3823A>G
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