Canonical Allele Identifier: CA3892218

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75097282T>C , CM000668.2:g.75097282T>C	GRCh38
NC_000006.11:g.75806998T>C , CM000668.1:g.75806998T>C	GRCh37
NC_000006.10:g.75863718T>C	NCBI36
NG_042181.1:g.113626A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.8548A>G MANE Select	NP_004361.3:p.Met2850Val
ENST00000322507.13:c.8548A>G MANE Select	ENSP00000325146.8:p.Met2850Val
NM_004370.5:c.8548A>G	NP_004361.3:p.Met2850Val
NM_080645.2:c.5056A>G	NP_542376.2:p.Met1686Val
NM_080645.3:c.5056A>G	NP_542376.2:p.Met1686Val
ENST00000322507.12:c.8548A>G	ENSP00000325146.8:p.Met2850Val
ENST00000345356.10:c.5056A>G	ENSP00000305147.9:p.Met1686Val
ENST00000416123.6:c.8320A>G	ENSP00000412864.2:p.Met2774Val
ENST00000425443.6:c.1462A>G	ENSP00000399812.2:p.Met488Val
ENST00000483888.6:c.8548A>G	ENSP00000421216.1:p.Met2850Val
ENST00000511023.1:n.163A>G
ENST00000615798.4:c.4981A>G	ENSP00000483232.1:p.Met1661Val
XM_011535434.1:c.8548A>G	XP_011533736.1:p.Met2850Val
XM_011535435.1:c.8275A>G	XP_011533737.1:p.Met2759Val
XM_011535436.1:c.5056A>G	XP_011533738.1:p.Met1686Val
XM_011535436.2:c.5056A>G	XP_011533738.1:p.Met1686Val
XM_017010252.2:c.8512A>G	XP_016865741.1:p.Met2838Val