Canonical Allele Identifier: CA3893347
Gene: COL12A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.75143281A>G
GRCh37 chr6:g.75852997A>G
Revel Score:
ENST00000419671 0.556
ENST00000322507 (MANE Select) 0.733
ENST00000432784 0.733
ENST00000345356 0.733
ENST00000416123 0.733
ENST00000483888 0.733
gnomAD v2:
6:75852997 A / G
gnomAD v3:
6:75143281 A / G
gnomAD v4:
chr6-75143281-A-G
Joint Max Group AF 0.00017996 (AMR)
Genomes Max Group AF 0.00002259 (AMR)
Exomes Max Group AF 0.00020657 (AMR)
ClinVar Allele:
369176
ClinVar RCV:
RCV000441031
RCV000798902
ClinVar Variation:
391494
dbSNP:
180718181
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75143281A>G , CM000668.2:g.75143281A>G GRCh38
NC_000006.11:g.75852997A>G , CM000668.1:g.75852997A>G GRCh37
NC_000006.10:g.75909717A>G NCBI36
NG_042181.1:g.67627T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322507.13:c.4798T>C MANE Select ENSP00000325146.8:p.Tyr1600His
ENST00000322507.12:c.4798T>C ENSP00000325146.8:p.Tyr1600His
ENST00000345356.10:c.1306T>C ENSP00000305147.9:p.Tyr436His
ENST00000416123.6:c.4798T>C ENSP00000412864.2:p.Tyr1600His
ENST00000419671.1:c.1022T>C
ENST00000474564.1:n.422T>C
ENST00000483888.6:c.4798T>C ENSP00000421216.1:p.Tyr1600His
ENST00000615798.4:c.1231T>C ENSP00000483232.1:p.Tyr411His
NM_004370.5:c.4798T>C NP_004361.3:p.Tyr1600His
NM_080645.2:c.1306T>C NP_542376.2:p.Tyr436His
XM_011535434.1:c.4798T>C XP_011533736.1:p.Tyr1600His
XM_011535435.1:c.4525T>C XP_011533737.1:p.Tyr1509His
XM_011535436.1:c.1306T>C XP_011533738.1:p.Tyr436His
XM_011535436.2:c.1306T>C XP_011533738.1:p.Tyr436His
XM_017010252.2:c.4762T>C XP_016865741.1:p.Tyr1588His
NM_004370.6:c.4798T>C MANE Select NP_004361.3:p.Tyr1600His
NM_080645.3:c.1306T>C NP_542376.2:p.Tyr436His
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