Canonical Allele Identifier: CA3892026

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75087682G>C , CM000668.2:g.75087682G>C	GRCh38
NC_000006.11:g.75797398G>C , CM000668.1:g.75797398G>C	GRCh37
NC_000006.10:g.75854118G>C	NCBI36
NG_042181.1:g.123226C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.9076C>G MANE Select	NP_004361.3:p.Pro3026Ala
ENST00000322507.13:c.9076C>G MANE Select	ENSP00000325146.8:p.Pro3026Ala
NM_004370.5:c.9076C>G	NP_004361.3:p.Pro3026Ala
NM_080645.2:c.5584C>G	NP_542376.2:p.Pro1862Ala
NM_080645.3:c.5584C>G	NP_542376.2:p.Pro1862Ala
ENST00000322507.12:c.9076C>G	ENSP00000325146.8:p.Pro3026Ala
ENST00000345356.10:c.5584C>G	ENSP00000305147.9:p.Pro1862Ala
ENST00000416123.6:c.8848C>G	ENSP00000412864.2:p.Pro2950Ala
ENST00000425443.6:c.1990C>G	ENSP00000399812.2:p.Pro664Ala
ENST00000483888.6:c.9064C>G	ENSP00000421216.1:p.Pro3022Ala
ENST00000615798.4:c.5509C>G	ENSP00000483232.1:p.Pro1837Ala
ENST00000680981.1:n.485C>G
ENST00000681086.1:n.859C>G
XM_011535434.1:c.9076C>G	XP_011533736.1:p.Pro3026Ala
XM_011535435.1:c.8803C>G	XP_011533737.1:p.Pro2935Ala
XM_011535436.1:c.5584C>G	XP_011533738.1:p.Pro1862Ala
XM_011535436.2:c.5584C>G	XP_011533738.1:p.Pro1862Ala
XM_017010252.2:c.9040C>G	XP_016865741.1:p.Pro3014Ala