Canonical Allele Identifier: CA364739785

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75102683C>G , CM000668.2:g.75102683C>G	GRCh38
NC_000006.11:g.75812399C>G , CM000668.1:g.75812399C>G	GRCh37
NC_000006.10:g.75869119C>G	NCBI36
NG_042181.1:g.108225G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.8329G>C MANE Select	NP_004361.3:p.Gly2777Arg
ENST00000322507.13:c.8329G>C MANE Select	ENSP00000325146.8:p.Gly2777Arg
NM_004370.5:c.8329G>C	NP_004361.3:p.Gly2777Arg
NM_080645.2:c.4837G>C	NP_542376.2:p.Gly1613Arg
NM_080645.3:c.4837G>C	NP_542376.2:p.Gly1613Arg
ENST00000322507.12:c.8329G>C	ENSP00000325146.8:p.Gly2777Arg
ENST00000345356.10:c.4837G>C	ENSP00000305147.9:p.Gly1613Arg
ENST00000416123.6:c.8101G>C	ENSP00000412864.2:p.Gly2701Arg
ENST00000425443.6:c.1243G>C	ENSP00000399812.2:p.Gly415Arg
ENST00000483888.6:c.8329G>C	ENSP00000421216.1:p.Gly2777Arg
ENST00000615798.4:c.4762G>C	ENSP00000483232.1:p.Gly1588Arg
XM_011535434.1:c.8329G>C	XP_011533736.1:p.Gly2777Arg
XM_011535435.1:c.8056G>C	XP_011533737.1:p.Gly2686Arg
XM_011535436.1:c.4837G>C	XP_011533738.1:p.Gly1613Arg
XM_011535436.2:c.4837G>C	XP_011533738.1:p.Gly1613Arg
XM_017010252.2:c.8293G>C	XP_016865741.1:p.Gly2765Arg