Canonical Allele Identifier: CA3892021

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75087654C>T , CM000668.2:g.75087654C>T	GRCh38
NC_000006.11:g.75797370C>T , CM000668.1:g.75797370C>T	GRCh37
NC_000006.10:g.75854090C>T	NCBI36
NG_042181.1:g.123254G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322507.13:c.9104G>A MANE Select	ENSP00000325146.8:p.Arg3035Gln
ENST00000680981.1:n.513G>A
ENST00000681086.1:n.887G>A
ENST00000322507.12:c.9104G>A	ENSP00000325146.8:p.Arg3035Gln
ENST00000345356.10:c.5612G>A	ENSP00000305147.9:p.Arg1871Gln
ENST00000416123.6:c.8876G>A	ENSP00000412864.2:p.Arg2959Gln
ENST00000425443.6:c.2018G>A	ENSP00000399812.2:p.Arg673Gln
ENST00000483888.6:c.9092G>A	ENSP00000421216.1:p.Arg3031Gln
ENST00000615798.4:c.5537G>A	ENSP00000483232.1:p.Arg1846Gln
NM_004370.5:c.9104G>A	NP_004361.3:p.Arg3035Gln
NM_080645.2:c.5612G>A	NP_542376.2:p.Arg1871Gln
XM_011535434.1:c.9104G>A	XP_011533736.1:p.Arg3035Gln
XM_011535435.1:c.8831G>A	XP_011533737.1:p.Arg2944Gln
XM_011535436.1:c.5612G>A	XP_011533738.1:p.Arg1871Gln
XM_011535436.2:c.5612G>A	XP_011533738.1:p.Arg1871Gln
XM_017010252.2:c.9068G>A	XP_016865741.1:p.Arg3023Gln
NM_004370.6:c.9104G>A MANE Select	NP_004361.3:p.Arg3035Gln
NM_080645.3:c.5612G>A	NP_542376.2:p.Arg1871Gln