Canonical Allele Identifier: CA3893781
Gene: COL12A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.75156262G>C
GRCh37 chr6:g.75865978G>C
Revel Score:
ENST00000322507 (MANE Select) 0.186
ENST00000432784 0.186
ENST00000416123 0.186
ENST00000483888 0.186
gnomAD v2:
6:75865978 G / C
gnomAD v3:
6:75156262 G / C
gnomAD v4:
chr6-75156262-G-C
Joint Max Group AF 0.00010026 (NFE)
Genomes Max Group AF 0.00002847 (NFE)
Exomes Max Group AF 0.00010197 (NFE)
ClinVar Allele:
522142
ClinVar RCV:
RCV000652917
RCV001584508
ClinVar Variation:
542488
dbSNP:
762817385
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75156262G>C , CM000668.2:g.75156262G>C GRCh38
NC_000006.11:g.75865978G>C , CM000668.1:g.75865978G>C GRCh37
NC_000006.10:g.75922698G>C NCBI36
NG_042181.1:g.54646C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000322507.13:c.3245C>G MANE Select ENSP00000325146.8:p.Thr1082Arg
ENST00000322507.12:c.3245C>G ENSP00000325146.8:p.Thr1082Arg
ENST00000345356.10:c.74-3780C>G ENSP00000305147.9:n.74-3780C>G
ENST00000416123.6:c.3245C>G ENSP00000412864.2:p.Thr1082Arg
ENST00000483888.6:c.3245C>G ENSP00000421216.1:p.Thr1082Arg
ENST00000615798.4:c.-323C>G ENSP00000483232.1:n.-323C>G
NM_004370.5:c.3245C>G NP_004361.3:p.Thr1082Arg
NM_080645.2:c.74-3780C>G NP_542376.2:n.74-3780C>G
XM_011535434.1:c.3245C>G XP_011533736.1:p.Thr1082Arg
XM_011535435.1:c.2972C>G XP_011533737.1:p.Thr991Arg
XM_011535436.1:c.74-3780C>G XP_011533738.1:n.74-3780C>G
XM_011535436.2:c.74-3780C>G XP_011533738.1:n.74-3780C>G
XM_017010252.2:c.3209C>G XP_016865741.1:p.Thr1070Arg
NM_004370.6:c.3245C>G MANE Select NP_004361.3:p.Thr1082Arg
NM_080645.3:c.74-3780C>G NP_542376.2:n.74-3780C>G
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