Canonical Allele Identifier: CA364740504

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75142065C>A , CM000668.2:g.75142065C>A	GRCh38
NC_000006.11:g.75851781C>A , CM000668.1:g.75851781C>A	GRCh37
NC_000006.10:g.75908501C>A	NCBI36
NG_042181.1:g.68843G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.4924G>T MANE Select	NP_004361.3:p.Glu1642Ter
ENST00000322507.13:c.4924G>T MANE Select	ENSP00000325146.8:p.Glu1642Ter
NM_004370.5:c.4924G>T	NP_004361.3:p.Glu1642Ter
NM_080645.2:c.1432G>T	NP_542376.2:p.Glu478Ter
NM_080645.3:c.1432G>T	NP_542376.2:p.Glu478Ter
ENST00000322507.12:c.4924G>T	ENSP00000325146.8:p.Glu1642Ter
ENST00000345356.10:c.1432G>T	ENSP00000305147.9:p.Glu478Ter
ENST00000416123.6:c.4924G>T	ENSP00000412864.2:p.Glu1642Ter
ENST00000419671.1:c.1148G>T
ENST00000483888.6:c.4924G>T	ENSP00000421216.1:p.Glu1642Ter
ENST00000615798.4:c.1357G>T	ENSP00000483232.1:p.Glu453Ter
XM_011535434.1:c.4924G>T	XP_011533736.1:p.Glu1642Ter
XM_011535435.1:c.4651G>T	XP_011533737.1:p.Glu1551Ter
XM_011535436.1:c.1432G>T	XP_011533738.1:p.Glu478Ter
XM_011535436.2:c.1432G>T	XP_011533738.1:p.Glu478Ter
XM_017010252.2:c.4888G>T	XP_016865741.1:p.Glu1630Ter