Canonical Allele Identifier: CA140981572

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75123398T>C , CM000668.2:g.75123398T>C	GRCh38
NC_000006.11:g.75833114T>C , CM000668.1:g.75833114T>C	GRCh37
NC_000006.10:g.75889834T>C	NCBI36
NG_042181.1:g.87510A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.6878A>G MANE Select	NP_004361.3:p.Lys2293Arg
ENST00000322507.13:c.6878A>G MANE Select	ENSP00000325146.8:p.Lys2293Arg
NM_004370.5:c.6878A>G	NP_004361.3:p.Lys2293Arg
NM_080645.2:c.3386A>G	NP_542376.2:p.Lys1129Arg
NM_080645.3:c.3386A>G	NP_542376.2:p.Lys1129Arg
ENST00000322507.12:c.6878A>G	ENSP00000325146.8:p.Lys2293Arg
ENST00000345356.10:c.3386A>G	ENSP00000305147.9:p.Lys1129Arg
ENST00000416123.6:c.6878A>G	ENSP00000412864.2:p.Lys2293Arg
ENST00000483888.6:c.6878A>G	ENSP00000421216.1:p.Lys2293Arg
ENST00000615798.4:c.3311A>G	ENSP00000483232.1:p.Lys1104Arg
XM_011535434.1:c.6878A>G	XP_011533736.1:p.Lys2293Arg
XM_011535435.1:c.6605A>G	XP_011533737.1:p.Lys2202Arg
XM_011535436.1:c.3386A>G	XP_011533738.1:p.Lys1129Arg
XM_011535436.2:c.3386A>G	XP_011533738.1:p.Lys1129Arg
XM_017010252.2:c.6842A>G	XP_016865741.1:p.Lys2281Arg