Canonical Allele Identifier: CA3893466

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75147721C>A , CM000668.2:g.75147721C>A	GRCh38
NC_000006.11:g.75857437C>A , CM000668.1:g.75857437C>A	GRCh37
NC_000006.10:g.75914157C>A	NCBI36
NG_042181.1:g.63187G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322507.13:c.4371G>T MANE Select	ENSP00000325146.8:p.Val1457=
ENST00000322507.12:c.4371G>T	ENSP00000325146.8:p.Val1457=
ENST00000345356.10:c.879G>T	ENSP00000305147.9:p.Val293=
ENST00000416123.6:c.4371G>T	ENSP00000412864.2:p.Val1457=
ENST00000419671.1:c.595G>T
ENST00000483888.6:c.4371G>T	ENSP00000421216.1:p.Val1457=
ENST00000615798.4:c.804G>T	ENSP00000483232.1:p.Val268=
NM_004370.5:c.4371G>T	NP_004361.3:p.Val1457=
NM_080645.2:c.879G>T	NP_542376.2:p.Val293=
XM_011535434.1:c.4371G>T	XP_011533736.1:p.Val1457=
XM_011535435.1:c.4098G>T	XP_011533737.1:p.Val1366=
XM_011535436.1:c.879G>T	XP_011533738.1:p.Val293=
XM_011535436.2:c.879G>T	XP_011533738.1:p.Val293=
XM_017010252.2:c.4335G>T	XP_016865741.1:p.Val1445=
NM_004370.6:c.4371G>T MANE Select	NP_004361.3:p.Val1457=
NM_080645.3:c.879G>T	NP_542376.2:p.Val293=