Canonical Allele Identifier: CA364732615

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75087592C>G , CM000668.2:g.75087592C>G	GRCh38
NC_000006.11:g.75797308C>G , CM000668.1:g.75797308C>G	GRCh37
NC_000006.10:g.75854028C>G	NCBI36
NG_042181.1:g.123316G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.9166G>C MANE Select	NP_004361.3:p.Gly3056Arg
ENST00000322507.13:c.9166G>C MANE Select	ENSP00000325146.8:p.Gly3056Arg
NM_004370.5:c.9166G>C	NP_004361.3:p.Gly3056Arg
NM_080645.2:c.5674G>C	NP_542376.2:p.Gly1892Arg
NM_080645.3:c.5674G>C	NP_542376.2:p.Gly1892Arg
ENST00000322507.12:c.9166G>C	ENSP00000325146.8:p.Gly3056Arg
ENST00000345356.10:c.5674G>C	ENSP00000305147.9:p.Gly1892Arg
ENST00000416123.6:c.8938G>C	ENSP00000412864.2:p.Gly2980Arg
ENST00000425443.6:c.2080G>C	ENSP00000399812.2:p.Gly694Arg
ENST00000483888.6:c.9154G>C	ENSP00000421216.1:p.Gly3052Arg
ENST00000615798.4:c.5599G>C	ENSP00000483232.1:p.Gly1867Arg
ENST00000680981.1:n.575G>C
ENST00000681086.1:n.949G>C
XM_011535434.1:c.9166G>C	XP_011533736.1:p.Gly3056Arg
XM_011535435.1:c.8893G>C	XP_011533737.1:p.Gly2965Arg
XM_011535436.1:c.5674G>C	XP_011533738.1:p.Gly1892Arg
XM_011535436.2:c.5674G>C	XP_011533738.1:p.Gly1892Arg
XM_017010252.2:c.9130G>C	XP_016865741.1:p.Gly3044Arg