Canonical Allele Identifier: CA364739172

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75102004G>A , CM000668.2:g.75102004G>A	GRCh38
NC_000006.11:g.75811720G>A , CM000668.1:g.75811720G>A	GRCh37
NC_000006.10:g.75868440G>A	NCBI36
NG_042181.1:g.108904C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.8464C>T MANE Select	NP_004361.3:p.Arg2822Ter
ENST00000322507.13:c.8464C>T MANE Select	ENSP00000325146.8:p.Arg2822Ter
NM_004370.5:c.8464C>T	NP_004361.3:p.Arg2822Ter
NM_080645.2:c.4972C>T	NP_542376.2:p.Arg1658Ter
NM_080645.3:c.4972C>T	NP_542376.2:p.Arg1658Ter
ENST00000322507.12:c.8464C>T	ENSP00000325146.8:p.Arg2822Ter
ENST00000345356.10:c.4972C>T	ENSP00000305147.9:p.Arg1658Ter
ENST00000416123.6:c.8236C>T	ENSP00000412864.2:p.Arg2746Ter
ENST00000425443.6:c.1378C>T	ENSP00000399812.2:p.Arg460Ter
ENST00000483888.6:c.8464C>T	ENSP00000421216.1:p.Arg2822Ter
ENST00000615798.4:c.4897C>T	ENSP00000483232.1:p.Arg1633Ter
XM_011535434.1:c.8464C>T	XP_011533736.1:p.Arg2822Ter
XM_011535435.1:c.8191C>T	XP_011533737.1:p.Arg2731Ter
XM_011535436.1:c.4972C>T	XP_011533738.1:p.Arg1658Ter
XM_011535436.2:c.4972C>T	XP_011533738.1:p.Arg1658Ter
XM_017010252.2:c.8428C>T	XP_016865741.1:p.Arg2810Ter