Canonical Allele Identifier: CA3892348

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75105286C>T , CM000668.2:g.75105286C>T	GRCh38
NC_000006.11:g.75815002C>T , CM000668.1:g.75815002C>T	GRCh37
NC_000006.10:g.75871722C>T	NCBI36
NG_042181.1:g.105622G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.8185G>A MANE Select	NP_004361.3:p.Glu2729Lys
ENST00000322507.13:c.8185G>A MANE Select	ENSP00000325146.8:p.Glu2729Lys
NM_004370.5:c.8185G>A	NP_004361.3:p.Glu2729Lys
NM_080645.2:c.4693G>A	NP_542376.2:p.Glu1565Lys
NM_080645.3:c.4693G>A	NP_542376.2:p.Glu1565Lys
ENST00000322507.12:c.8185G>A	ENSP00000325146.8:p.Glu2729Lys
ENST00000345356.10:c.4693G>A	ENSP00000305147.9:p.Glu1565Lys
ENST00000416123.6:c.7957G>A	ENSP00000412864.2:p.Glu2653Lys
ENST00000425443.6:c.1099G>A	ENSP00000399812.2:p.Glu367Lys
ENST00000483888.6:c.8185G>A	ENSP00000421216.1:p.Glu2729Lys
ENST00000615798.4:c.4618G>A	ENSP00000483232.1:p.Glu1540Lys
XM_011535434.1:c.8185G>A	XP_011533736.1:p.Glu2729Lys
XM_011535435.1:c.7912G>A	XP_011533737.1:p.Glu2638Lys
XM_011535436.1:c.4693G>A	XP_011533738.1:p.Glu1565Lys
XM_011535436.2:c.4693G>A	XP_011533738.1:p.Glu1565Lys
XM_017010252.2:c.8149G>A	XP_016865741.1:p.Glu2717Lys