Canonical Allele Identifier: CA364737903

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75137562G>A , CM000668.2:g.75137562G>A	GRCh38
NC_000006.11:g.75847278G>A , CM000668.1:g.75847278G>A	GRCh37
NC_000006.10:g.75903998G>A	NCBI36
NG_042181.1:g.73346C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.5269C>T MANE Select	NP_004361.3:p.Arg1757Ter
ENST00000322507.13:c.5269C>T MANE Select	ENSP00000325146.8:p.Arg1757Ter
NM_004370.5:c.5269C>T	NP_004361.3:p.Arg1757Ter
NM_080645.2:c.1777C>T	NP_542376.2:p.Arg593Ter
NM_080645.3:c.1777C>T	NP_542376.2:p.Arg593Ter
ENST00000322507.12:c.5269C>T	ENSP00000325146.8:p.Arg1757Ter
ENST00000345356.10:c.1777C>T	ENSP00000305147.9:p.Arg593Ter
ENST00000416123.6:c.5269C>T	ENSP00000412864.2:p.Arg1757Ter
ENST00000419671.1:c.1472C>T
ENST00000483888.6:c.5269C>T	ENSP00000421216.1:p.Arg1757Ter
ENST00000615798.4:c.1702C>T	ENSP00000483232.1:p.Arg568Ter
XM_011535434.1:c.5269C>T	XP_011533736.1:p.Arg1757Ter
XM_011535435.1:c.4996C>T	XP_011533737.1:p.Arg1666Ter
XM_011535436.1:c.1777C>T	XP_011533738.1:p.Arg593Ter
XM_011535436.2:c.1777C>T	XP_011533738.1:p.Arg593Ter
XM_017010252.2:c.5233C>T	XP_016865741.1:p.Arg1745Ter