Canonical Allele Identifier: CA203987

Gene: COL12A1

Linked Data

• ClinVar Variation Id: 204295
• ClinVar RCV Id: RCV000186499 ; RCV000480507 ; RCV000664222 ; RCV000850513
• dbSNP Id: rs796052093
• gnomAD v4: 6-75121387-A-G
• COSMIC: COSM3875487
• MyVariant Identifiers: chr6:g.75831103A>G (hg19) ; chr6:g.75121387A>G (hg38)
• PubMed: PMID:24334604

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75121387A>G , CM000668.2:g.75121387A>G	GRCh38
NC_000006.11:g.75831103A>G , CM000668.1:g.75831103A>G	GRCh37
NC_000006.10:g.75887823A>G	NCBI36
NG_042181.1:g.89521T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322507.13:c.7001T>C MANE Select	ENSP00000325146.8:p.Ile2334Thr
ENST00000322507.12:c.7001T>C	ENSP00000325146.8:p.Ile2334Thr
ENST00000345356.10:c.3509T>C	ENSP00000305147.9:p.Ile1170Thr
ENST00000416123.6:c.7001T>C	ENSP00000412864.2:p.Ile2334Thr
ENST00000483888.6:c.7001T>C	ENSP00000421216.1:p.Ile2334Thr
ENST00000615798.4:c.3434T>C	ENSP00000483232.1:p.Ile1145Thr
NM_004370.5:c.7001T>C	NP_004361.3:p.Ile2334Thr
NM_080645.2:c.3509T>C	NP_542376.2:p.Ile1170Thr
XM_011535434.1:c.7001T>C	XP_011533736.1:p.Ile2334Thr
XM_011535435.1:c.6728T>C	XP_011533737.1:p.Ile2243Thr
XM_011535436.1:c.3509T>C	XP_011533738.1:p.Ile1170Thr
XM_011535436.2:c.3509T>C	XP_011533738.1:p.Ile1170Thr
XM_017010252.2:c.6965T>C	XP_016865741.1:p.Ile2322Thr
NM_004370.6:c.7001T>C MANE Select	NP_004361.3:p.Ile2334Thr
NM_080645.3:c.3509T>C	NP_542376.2:p.Ile1170Thr