Canonical Allele Identifier: CA3892698

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75123348T>C , CM000668.2:g.75123348T>C	GRCh38
NC_000006.11:g.75833064T>C , CM000668.1:g.75833064T>C	GRCh37
NC_000006.10:g.75889784T>C	NCBI36
NG_042181.1:g.87560A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.6928A>G MANE Select	NP_004361.3:p.Ile2310Val
ENST00000322507.13:c.6928A>G MANE Select	ENSP00000325146.8:p.Ile2310Val
NM_004370.5:c.6928A>G	NP_004361.3:p.Ile2310Val
NM_080645.2:c.3436A>G	NP_542376.2:p.Ile1146Val
NM_080645.3:c.3436A>G	NP_542376.2:p.Ile1146Val
ENST00000322507.12:c.6928A>G	ENSP00000325146.8:p.Ile2310Val
ENST00000345356.10:c.3436A>G	ENSP00000305147.9:p.Ile1146Val
ENST00000416123.6:c.6928A>G	ENSP00000412864.2:p.Ile2310Val
ENST00000483888.6:c.6928A>G	ENSP00000421216.1:p.Ile2310Val
ENST00000615798.4:c.3361A>G	ENSP00000483232.1:p.Ile1121Val
XM_011535434.1:c.6928A>G	XP_011533736.1:p.Ile2310Val
XM_011535435.1:c.6655A>G	XP_011533737.1:p.Ile2219Val
XM_011535436.1:c.3436A>G	XP_011533738.1:p.Ile1146Val
XM_011535436.2:c.3436A>G	XP_011533738.1:p.Ile1146Val
XM_017010252.2:c.6892A>G	XP_016865741.1:p.Ile2298Val