Canonical Allele Identifier: CA3892499
Gene: COL12A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.75115791G>A
GRCh37 chr6:g.75825507G>A
Revel Score:
ENST00000322507 (MANE Select) 0.499
ENST00000425443 0.499
ENST00000432784 0.499
ENST00000345356 0.499
ENST00000416123 0.499
ENST00000483888 0.499
ENST00000493109 0.499
gnomAD v2:
6:75825507 G / A
gnomAD v3:
6:75115791 G / A
gnomAD v4:
chr6-75115791-G-A
Joint Max Group AF 0.00100438 (AFR)
Genomes Max Group AF 0.00104444 (AFR)
Exomes Max Group AF 0.00078149 (AFR)
ClinVar Allele:
521773
ClinVar RCV:
RCV000652929
RCV001775942
ClinVar Variation:
542500
dbSNP:
199724285
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75115791G>A , CM000668.2:g.75115791G>A GRCh38
NC_000006.11:g.75825507G>A , CM000668.1:g.75825507G>A GRCh37
NC_000006.10:g.75882227G>A NCBI36
NG_042181.1:g.95117C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322507.13:c.7690C>T MANE Select ENSP00000325146.8:p.Pro2564Ser
ENST00000322507.12:c.7690C>T ENSP00000325146.8:p.Pro2564Ser
ENST00000345356.10:c.4198C>T ENSP00000305147.9:p.Pro1400Ser
ENST00000416123.6:c.7690C>T ENSP00000412864.2:p.Pro2564Ser
ENST00000425443.6:c.604C>T ENSP00000399812.2:p.Pro202Ser
ENST00000483888.6:c.7690C>T ENSP00000421216.1:p.Pro2564Ser
ENST00000493109.2:c.352C>T ENSP00000423423.1:p.Pro118Ser
ENST00000615798.4:c.4123C>T ENSP00000483232.1:p.Pro1375Ser
NM_004370.5:c.7690C>T NP_004361.3:p.Pro2564Ser
NM_080645.2:c.4198C>T NP_542376.2:p.Pro1400Ser
XM_011535434.1:c.7690C>T XP_011533736.1:p.Pro2564Ser
XM_011535435.1:c.7417C>T XP_011533737.1:p.Pro2473Ser
XM_011535436.1:c.4198C>T XP_011533738.1:p.Pro1400Ser
XM_011535436.2:c.4198C>T XP_011533738.1:p.Pro1400Ser
XM_017010252.2:c.7654C>T XP_016865741.1:p.Pro2552Ser
NM_004370.6:c.7690C>T MANE Select NP_004361.3:p.Pro2564Ser
NM_080645.3:c.4198C>T NP_542376.2:p.Pro1400Ser
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