Canonical Allele Identifier: CA364741921

Gene: COL12A1

Linked Data

• ClinVar Variation Id: 2952332
• ClinVar RCV Id: RCV003815483
• MyVariant Identifiers: chr6:g.75853000G>C (hg19) ; chr6:g.75143284G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75143284G>C , CM000668.2:g.75143284G>C	GRCh38
NC_000006.11:g.75853000G>C , CM000668.1:g.75853000G>C	GRCh37
NC_000006.10:g.75909720G>C	NCBI36
NG_042181.1:g.67624C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322507.13:c.4795C>G MANE Select	ENSP00000325146.8:p.Arg1599Gly
ENST00000322507.12:c.4795C>G	ENSP00000325146.8:p.Arg1599Gly
ENST00000345356.10:c.1303C>G	ENSP00000305147.9:p.Arg435Gly
ENST00000416123.6:c.4795C>G	ENSP00000412864.2:p.Arg1599Gly
ENST00000419671.1:c.1019C>G
ENST00000474564.1:n.419C>G
ENST00000483888.6:c.4795C>G	ENSP00000421216.1:p.Arg1599Gly
ENST00000615798.4:c.1228C>G	ENSP00000483232.1:p.Arg410Gly
NM_004370.5:c.4795C>G	NP_004361.3:p.Arg1599Gly
NM_080645.2:c.1303C>G	NP_542376.2:p.Arg435Gly
XM_011535434.1:c.4795C>G	XP_011533736.1:p.Arg1599Gly
XM_011535435.1:c.4522C>G	XP_011533737.1:p.Arg1508Gly
XM_011535436.1:c.1303C>G	XP_011533738.1:p.Arg435Gly
XM_011535436.2:c.1303C>G	XP_011533738.1:p.Arg435Gly
XM_017010252.2:c.4759C>G	XP_016865741.1:p.Arg1587Gly
NM_004370.6:c.4795C>G MANE Select	NP_004361.3:p.Arg1599Gly
NM_080645.3:c.1303C>G	NP_542376.2:p.Arg435Gly