Canonical Allele Identifier: CA3892808
Gene: COL12A1 HGNC NCBI
COSMIC:
COSM4649761 (not active)
MyVariant.info:
GRCh38 chr6:g.75126363A>G
GRCh37 chr6:g.75836079A>G
Revel Score:
ENST00000322507 (MANE Select) 0.678
ENST00000432784 0.678
ENST00000345356 0.678
ENST00000416123 0.678
ENST00000483888 0.678
gnomAD v2:
6:75836079 A / G
gnomAD v3:
6:75126363 A / G
gnomAD v4:
chr6-75126363-A-G
Joint Max Group AF 0.00273468 (MID)
Genomes Max Group AF 0.00076234 (AMR)
Exomes Max Group AF 0.00288547 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75126363A>G , CM000668.2:g.75126363A>G GRCh38
NC_000006.11:g.75836079A>G , CM000668.1:g.75836079A>G GRCh37
NC_000006.10:g.75892799A>G NCBI36
NG_042181.1:g.84545T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322507.13:c.6448T>C MANE Select ENSP00000325146.8:p.Tyr2150His
ENST00000322507.12:c.6448T>C ENSP00000325146.8:p.Tyr2150His
ENST00000345356.10:c.2956T>C ENSP00000305147.9:p.Tyr986His
ENST00000416123.6:c.6448T>C ENSP00000412864.2:p.Tyr2150His
ENST00000483888.6:c.6448T>C ENSP00000421216.1:p.Tyr2150His
ENST00000615798.4:c.2881T>C ENSP00000483232.1:p.Tyr961His
NM_004370.5:c.6448T>C NP_004361.3:p.Tyr2150His
NM_080645.2:c.2956T>C NP_542376.2:p.Tyr986His
XM_011535434.1:c.6448T>C XP_011533736.1:p.Tyr2150His
XM_011535435.1:c.6175T>C XP_011533737.1:p.Tyr2059His
XM_011535436.1:c.2956T>C XP_011533738.1:p.Tyr986His
XM_011535436.2:c.2956T>C XP_011533738.1:p.Tyr986His
XM_017010252.2:c.6412T>C XP_016865741.1:p.Tyr2138His
NM_004370.6:c.6448T>C MANE Select NP_004361.3:p.Tyr2150His
NM_080645.3:c.2956T>C NP_542376.2:p.Tyr986His
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