Canonical Allele Identifier: CA364746691

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75117532C>T , CM000668.2:g.75117532C>T	GRCh38
NC_000006.11:g.75827248C>T , CM000668.1:g.75827248C>T	GRCh37
NC_000006.10:g.75883968C>T	NCBI36
NG_042181.1:g.93376G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322507.13:c.7369G>A MANE Select	ENSP00000325146.8:p.Val2457Ile
ENST00000322507.12:c.7369G>A	ENSP00000325146.8:p.Val2457Ile
ENST00000345356.10:c.3877G>A	ENSP00000305147.9:p.Val1293Ile
ENST00000416123.6:c.7369G>A	ENSP00000412864.2:p.Val2457Ile
ENST00000425443.6:c.283G>A	ENSP00000399812.2:p.Val95Ile
ENST00000483888.6:c.7369G>A	ENSP00000421216.1:p.Val2457Ile
ENST00000493109.2:c.31G>A	ENSP00000423423.1:p.Val11Ile
ENST00000615798.4:c.3802G>A	ENSP00000483232.1:p.Val1268Ile
NM_004370.5:c.7369G>A	NP_004361.3:p.Val2457Ile
NM_080645.2:c.3877G>A	NP_542376.2:p.Val1293Ile
XM_011535434.1:c.7369G>A	XP_011533736.1:p.Val2457Ile
XM_011535435.1:c.7096G>A	XP_011533737.1:p.Val2366Ile
XM_011535436.1:c.3877G>A	XP_011533738.1:p.Val1293Ile
XM_011535436.2:c.3877G>A	XP_011533738.1:p.Val1293Ile
XM_017010252.2:c.7333G>A	XP_016865741.1:p.Val2445Ile
NM_004370.6:c.7369G>A MANE Select	NP_004361.3:p.Val2457Ile
NM_080645.3:c.3877G>A	NP_542376.2:p.Val1293Ile