Canonical Allele Identifier: CA3892847

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75128380G>T , CM000668.2:g.75128380G>T	GRCh38
NC_000006.11:g.75838096G>T , CM000668.1:g.75838096G>T	GRCh37
NC_000006.10:g.75894816G>T	NCBI36
NG_042181.1:g.82528C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.6256C>A MANE Select	NP_004361.3:p.Gln2086Lys
ENST00000322507.13:c.6256C>A MANE Select	ENSP00000325146.8:p.Gln2086Lys
NM_004370.5:c.6256C>A	NP_004361.3:p.Gln2086Lys
NM_080645.2:c.2764C>A	NP_542376.2:p.Gln922Lys
NM_080645.3:c.2764C>A	NP_542376.2:p.Gln922Lys
ENST00000322507.12:c.6256C>A	ENSP00000325146.8:p.Gln2086Lys
ENST00000345356.10:c.2764C>A	ENSP00000305147.9:p.Gln922Lys
ENST00000416123.6:c.6256C>A	ENSP00000412864.2:p.Gln2086Lys
ENST00000483888.6:c.6256C>A	ENSP00000421216.1:p.Gln2086Lys
ENST00000615798.4:c.2689C>A	ENSP00000483232.1:p.Gln897Lys
XM_011535434.1:c.6256C>A	XP_011533736.1:p.Gln2086Lys
XM_011535435.1:c.5983C>A	XP_011533737.1:p.Gln1995Lys
XM_011535436.1:c.2764C>A	XP_011533738.1:p.Gln922Lys
XM_011535436.2:c.2764C>A	XP_011533738.1:p.Gln922Lys
XM_017010252.2:c.6220C>A	XP_016865741.1:p.Gln2074Lys