Canonical Allele Identifier: CA3892611
Gene: COL12A1 HGNC NCBI
COSMIC:
COSM310215
MyVariant.info:
GRCh38 chr6:g.75119174G>A
GRCh37 chr6:g.75828890G>A
Revel Score:
ENST00000322507 (MANE Select) 0.515
ENST00000425443 0.515
ENST00000432784 0.515
ENST00000345356 0.515
ENST00000416123 0.515
ENST00000483888 0.515
gnomAD v2:
6:75828890 G / A
gnomAD v3:
6:75119174 G / A
gnomAD v4:
chr6-75119174-G-A
Joint Max Group AF 0.00111969 (NFE)
Genomes Max Group AF 0.00098111 (NFE)
Exomes Max Group AF 0.00111715 (NFE)
ClinVar Allele:
456683
ClinVar RCV:
RCV000534733
RCV001509277
ClinVar Variation:
475893
dbSNP:
141593495
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75119174G>A , CM000668.2:g.75119174G>A GRCh38
NC_000006.11:g.75828890G>A , CM000668.1:g.75828890G>A GRCh37
NC_000006.10:g.75885610G>A NCBI36
NG_042181.1:g.91734C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322507.13:c.7223C>T MANE Select ENSP00000325146.8:p.Thr2408Met
ENST00000322507.12:c.7223C>T ENSP00000325146.8:p.Thr2408Met
ENST00000345356.10:c.3731C>T ENSP00000305147.9:p.Thr1244Met
ENST00000416123.6:c.7223C>T ENSP00000412864.2:p.Thr2408Met
ENST00000425443.6:c.137C>T ENSP00000399812.2:p.Thr46Met
ENST00000483888.6:c.7223C>T ENSP00000421216.1:p.Thr2408Met
ENST00000615798.4:c.3656C>T ENSP00000483232.1:p.Thr1219Met
NM_004370.5:c.7223C>T NP_004361.3:p.Thr2408Met
NM_080645.2:c.3731C>T NP_542376.2:p.Thr1244Met
XM_011535434.1:c.7223C>T XP_011533736.1:p.Thr2408Met
XM_011535435.1:c.6950C>T XP_011533737.1:p.Thr2317Met
XM_011535436.1:c.3731C>T XP_011533738.1:p.Thr1244Met
XM_011535436.2:c.3731C>T XP_011533738.1:p.Thr1244Met
XM_017010252.2:c.7187C>T XP_016865741.1:p.Thr2396Met
NM_004370.6:c.7223C>T MANE Select NP_004361.3:p.Thr2408Met
NM_080645.3:c.3731C>T NP_542376.2:p.Thr1244Met
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