Canonical Allele Identifier: CA3894479

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75192296G>C , CM000668.2:g.75192296G>C	GRCh38
NC_000006.11:g.75902012G>C , CM000668.1:g.75902012G>C	GRCh37
NC_000006.10:g.75958732G>C	NCBI36
NG_042181.1:g.18612C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.250C>G MANE Select	NP_004361.3:p.Leu84Val
ENST00000322507.13:c.250C>G MANE Select	ENSP00000325146.8:p.Leu84Val
NM_004370.5:c.250C>G	NP_004361.3:p.Leu84Val
NM_080645.2:c.73+10424C>G	NP_542376.2:n.73+10424C>G
NM_080645.3:c.73+10424C>G	NP_542376.2:n.73+10424C>G
ENST00000322507.12:c.250C>G	ENSP00000325146.8:p.Leu84Val
ENST00000345356.10:c.73+10424C>G	ENSP00000305147.9:n.73+10424C>G
ENST00000416123.6:c.250C>G	ENSP00000412864.2:p.Leu84Val
ENST00000483888.6:c.250C>G	ENSP00000421216.1:p.Leu84Val
ENST00000615798.4:c.-3318C>G	ENSP00000483232.1:n.-3318C>G
XM_011535434.1:c.250C>G	XP_011533736.1:p.Leu84Val
XM_011535435.1:c.250C>G	XP_011533737.1:p.Leu84Val
XM_011535436.1:c.73+10424C>G	XP_011533738.1:n.73+10424C>G
XM_011535436.2:c.73+10424C>G	XP_011533738.1:n.73+10424C>G
XM_017010252.2:c.214C>G	XP_016865741.1:p.Leu72Val