Canonical Allele Identifier: CA3892242

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75101628G>C , CM000668.2:g.75101628G>C	GRCh38
NC_000006.11:g.75811344G>C , CM000668.1:g.75811344G>C	GRCh37
NC_000006.10:g.75868064G>C	NCBI36
NG_042181.1:g.109280C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.8495C>G MANE Select	NP_004361.3:p.Pro2832Arg
ENST00000322507.13:c.8495C>G MANE Select	ENSP00000325146.8:p.Pro2832Arg
NM_004370.5:c.8495C>G	NP_004361.3:p.Pro2832Arg
NM_080645.2:c.5003C>G	NP_542376.2:p.Pro1668Arg
NM_080645.3:c.5003C>G	NP_542376.2:p.Pro1668Arg
ENST00000322507.12:c.8495C>G	ENSP00000325146.8:p.Pro2832Arg
ENST00000345356.10:c.5003C>G	ENSP00000305147.9:p.Pro1668Arg
ENST00000416123.6:c.8267C>G	ENSP00000412864.2:p.Pro2756Arg
ENST00000425443.6:c.1409C>G	ENSP00000399812.2:p.Pro470Arg
ENST00000483888.6:c.8495C>G	ENSP00000421216.1:p.Pro2832Arg
ENST00000511023.1:n.110C>G
ENST00000615798.4:c.4928C>G	ENSP00000483232.1:p.Pro1643Arg
XM_011535434.1:c.8495C>G	XP_011533736.1:p.Pro2832Arg
XM_011535435.1:c.8222C>G	XP_011533737.1:p.Pro2741Arg
XM_011535436.1:c.5003C>G	XP_011533738.1:p.Pro1668Arg
XM_011535436.2:c.5003C>G	XP_011533738.1:p.Pro1668Arg
XM_017010252.2:c.8459C>G	XP_016865741.1:p.Pro2820Arg