Canonical Allele Identifier: CA364762362

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75175229T>C , CM000668.2:g.75175229T>C	GRCh38
NC_000006.11:g.75884945T>C , CM000668.1:g.75884945T>C	GRCh37
NC_000006.10:g.75941665T>C	NCBI36
NG_042181.1:g.35679A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.2519A>G MANE Select	NP_004361.3:p.Lys840Arg
ENST00000322507.13:c.2519A>G MANE Select	ENSP00000325146.8:p.Lys840Arg
NM_004370.5:c.2519A>G	NP_004361.3:p.Lys840Arg
NM_080645.2:c.74-22747A>G	NP_542376.2:n.74-22747A>G
NM_080645.3:c.74-22747A>G	NP_542376.2:n.74-22747A>G
ENST00000322507.12:c.2519A>G	ENSP00000325146.8:p.Lys840Arg
ENST00000345356.10:c.74-22747A>G	ENSP00000305147.9:n.74-22747A>G
ENST00000416123.6:c.2519A>G	ENSP00000412864.2:p.Lys840Arg
ENST00000483888.6:c.2519A>G	ENSP00000421216.1:p.Lys840Arg
ENST00000615798.4:c.-1049A>G	ENSP00000483232.1:n.-1049A>G
XM_011535434.1:c.2519A>G	XP_011533736.1:p.Lys840Arg
XM_011535435.1:c.2437+2434A>G	XP_011533737.1:n.2437+2434A>G
XM_011535436.1:c.74-22747A>G	XP_011533738.1:n.74-22747A>G
XM_011535436.2:c.74-22747A>G	XP_011533738.1:n.74-22747A>G
XM_017010252.2:c.2483A>G	XP_016865741.1:p.Lys828Arg