Canonical Allele Identifier: CA3893400

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75145400G>A , CM000668.2:g.75145400G>A	GRCh38
NC_000006.11:g.75855116G>A , CM000668.1:g.75855116G>A	GRCh37
NC_000006.10:g.75911836G>A	NCBI36
NG_042181.1:g.65508C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.4616C>T MANE Select	NP_004361.3:p.Thr1539Met
ENST00000322507.13:c.4616C>T MANE Select	ENSP00000325146.8:p.Thr1539Met
NM_004370.5:c.4616C>T	NP_004361.3:p.Thr1539Met
NM_080645.2:c.1124C>T	NP_542376.2:p.Thr375Met
NM_080645.3:c.1124C>T	NP_542376.2:p.Thr375Met
ENST00000322507.12:c.4616C>T	ENSP00000325146.8:p.Thr1539Met
ENST00000345356.10:c.1124C>T	ENSP00000305147.9:p.Thr375Met
ENST00000416123.6:c.4616C>T	ENSP00000412864.2:p.Thr1539Met
ENST00000419671.1:c.840C>T
ENST00000474564.1:n.240C>T
ENST00000483888.6:c.4616C>T	ENSP00000421216.1:p.Thr1539Met
ENST00000615798.4:c.1049C>T	ENSP00000483232.1:p.Thr350Met
XM_011535434.1:c.4616C>T	XP_011533736.1:p.Thr1539Met
XM_011535435.1:c.4343C>T	XP_011533737.1:p.Thr1448Met
XM_011535436.1:c.1124C>T	XP_011533738.1:p.Thr375Met
XM_011535436.2:c.1124C>T	XP_011533738.1:p.Thr375Met
XM_017010252.2:c.4580C>T	XP_016865741.1:p.Thr1527Met