Canonical Allele Identifier: CA3893519

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75148464G>C , CM000668.2:g.75148464G>C	GRCh38
NC_000006.11:g.75858180G>C , CM000668.1:g.75858180G>C	GRCh37
NC_000006.10:g.75914900G>C	NCBI36
NG_042181.1:g.62444C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.4181C>G MANE Select	NP_004361.3:p.Ser1394Cys
ENST00000322507.13:c.4181C>G MANE Select	ENSP00000325146.8:p.Ser1394Cys
NM_004370.5:c.4181C>G	NP_004361.3:p.Ser1394Cys
NM_080645.2:c.689C>G	NP_542376.2:p.Ser230Cys
NM_080645.3:c.689C>G	NP_542376.2:p.Ser230Cys
ENST00000322507.12:c.4181C>G	ENSP00000325146.8:p.Ser1394Cys
ENST00000345356.10:c.689C>G	ENSP00000305147.9:p.Ser230Cys
ENST00000416123.6:c.4181C>G	ENSP00000412864.2:p.Ser1394Cys
ENST00000419671.1:c.405C>G
ENST00000483888.6:c.4181C>G	ENSP00000421216.1:p.Ser1394Cys
ENST00000615798.4:c.614C>G	ENSP00000483232.1:p.Ser205Cys
XM_011535434.1:c.4181C>G	XP_011533736.1:p.Ser1394Cys
XM_011535435.1:c.3908C>G	XP_011533737.1:p.Ser1303Cys
XM_011535436.1:c.689C>G	XP_011533738.1:p.Ser230Cys
XM_011535436.2:c.689C>G	XP_011533738.1:p.Ser230Cys
XM_017010252.2:c.4145C>G	XP_016865741.1:p.Ser1382Cys