Canonical Allele Identifier: CA3892699
Gene: COL12A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.75123354G>C
GRCh37 chr6:g.75833070G>C
Revel Score:
ENST00000322507 (MANE Select) 0.111
ENST00000432784 0.111
ENST00000345356 0.111
ENST00000416123 0.111
ENST00000483888 0.111
gnomAD v2:
6:75833070 G / C
gnomAD v3:
6:75123354 G / C
gnomAD v4:
chr6-75123354-G-C
Joint Max Group AF 0.000513 (NFE)
Genomes Max Group AF 0.00035419 (NFE)
Exomes Max Group AF 0.00051621 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75123354G>C , CM000668.2:g.75123354G>C GRCh38
NC_000006.11:g.75833070G>C , CM000668.1:g.75833070G>C GRCh37
NC_000006.10:g.75889790G>C NCBI36
NG_042181.1:g.87554C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000322507.13:c.6922C>G MANE Select ENSP00000325146.8:p.Pro2308Ala
ENST00000322507.12:c.6922C>G ENSP00000325146.8:p.Pro2308Ala
ENST00000345356.10:c.3430C>G ENSP00000305147.9:p.Pro1144Ala
ENST00000416123.6:c.6922C>G ENSP00000412864.2:p.Pro2308Ala
ENST00000483888.6:c.6922C>G ENSP00000421216.1:p.Pro2308Ala
ENST00000615798.4:c.3355C>G ENSP00000483232.1:p.Pro1119Ala
NM_004370.5:c.6922C>G NP_004361.3:p.Pro2308Ala
NM_080645.2:c.3430C>G NP_542376.2:p.Pro1144Ala
XM_011535434.1:c.6922C>G XP_011533736.1:p.Pro2308Ala
XM_011535435.1:c.6649C>G XP_011533737.1:p.Pro2217Ala
XM_011535436.1:c.3430C>G XP_011533738.1:p.Pro1144Ala
XM_011535436.2:c.3430C>G XP_011533738.1:p.Pro1144Ala
XM_017010252.2:c.6886C>G XP_016865741.1:p.Pro2296Ala
NM_004370.6:c.6922C>G MANE Select NP_004361.3:p.Pro2308Ala
NM_080645.3:c.3430C>G NP_542376.2:p.Pro1144Ala
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