Canonical Allele Identifier: CA364750453

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75152398G>T , CM000668.2:g.75152398G>T	GRCh38
NC_000006.11:g.75862114G>T , CM000668.1:g.75862114G>T	GRCh37
NC_000006.10:g.75918834G>T	NCBI36
NG_042181.1:g.58510C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.3650C>A MANE Select	NP_004361.3:p.Thr1217Asn
ENST00000322507.13:c.3650C>A MANE Select	ENSP00000325146.8:p.Thr1217Asn
NM_004370.5:c.3650C>A	NP_004361.3:p.Thr1217Asn
NM_080645.2:c.158C>A	NP_542376.2:p.Thr53Asn
NM_080645.3:c.158C>A	NP_542376.2:p.Thr53Asn
ENST00000322507.12:c.3650C>A	ENSP00000325146.8:p.Thr1217Asn
ENST00000345356.10:c.158C>A	ENSP00000305147.9:p.Thr53Asn
ENST00000416123.6:c.3650C>A	ENSP00000412864.2:p.Thr1217Asn
ENST00000483888.6:c.3650C>A	ENSP00000421216.1:p.Thr1217Asn
ENST00000615798.4:c.83C>A	ENSP00000483232.1:p.Thr28Asn
XM_011535434.1:c.3650C>A	XP_011533736.1:p.Thr1217Asn
XM_011535435.1:c.3377C>A	XP_011533737.1:p.Thr1126Asn
XM_011535436.1:c.158C>A	XP_011533738.1:p.Thr53Asn
XM_011535436.2:c.158C>A	XP_011533738.1:p.Thr53Asn
XM_017010252.2:c.3614C>A	XP_016865741.1:p.Thr1205Asn