Canonical Allele Identifier: CA3893597
Gene: COL12A1 HGNC NCBI
COSMIC:
COSM294260
MyVariant.info:
GRCh38 chr6:g.75152010C>T
GRCh37 chr6:g.75861726C>T
Revel Score:
ENST00000322507 (MANE Select) 0.202
ENST00000432784 0.202
ENST00000345356 0.202
ENST00000416123 0.202
ENST00000483888 0.202
gnomAD v2:
6:75861726 C / T
gnomAD v3:
6:75152010 C / T
gnomAD v4:
chr6-75152010-C-T
Joint Max Group AF 0.0001342 (MID)
Genomes Max Group AF 0.00002263 (AMR)
Exomes Max Group AF 0.00014149 (MID)
ClinVar RCV:
RCV000523224
RCV000821262
ClinVar Variation:
450114
dbSNP:
191757914
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75152010C>T , CM000668.2:g.75152010C>T GRCh38
NC_000006.11:g.75861726C>T , CM000668.1:g.75861726C>T GRCh37
NC_000006.10:g.75918446C>T NCBI36
NG_042181.1:g.58898G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322507.13:c.3857G>A MANE Select ENSP00000325146.8:p.Arg1286His
ENST00000322507.12:c.3857G>A ENSP00000325146.8:p.Arg1286His
ENST00000345356.10:c.365G>A ENSP00000305147.9:p.Arg122His
ENST00000416123.6:c.3857G>A ENSP00000412864.2:p.Arg1286His
ENST00000419671.1:c.81G>A
ENST00000483888.6:c.3857G>A ENSP00000421216.1:p.Arg1286His
ENST00000615798.4:c.290G>A ENSP00000483232.1:p.Arg97His
NM_004370.5:c.3857G>A NP_004361.3:p.Arg1286His
NM_080645.2:c.365G>A NP_542376.2:p.Arg122His
XM_011535434.1:c.3857G>A XP_011533736.1:p.Arg1286His
XM_011535435.1:c.3584G>A XP_011533737.1:p.Arg1195His
XM_011535436.1:c.365G>A XP_011533738.1:p.Arg122His
XM_011535436.2:c.365G>A XP_011533738.1:p.Arg122His
XM_017010252.2:c.3821G>A XP_016865741.1:p.Arg1274His
NM_004370.6:c.3857G>A MANE Select NP_004361.3:p.Arg1286His
NM_080645.3:c.365G>A NP_542376.2:p.Arg122His
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