Canonical Allele Identifier: CA3892457

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75113629T>G , CM000668.2:g.75113629T>G	GRCh38
NC_000006.11:g.75823345T>G , CM000668.1:g.75823345T>G	GRCh37
NC_000006.10:g.75880065T>G	NCBI36
NG_042181.1:g.97279A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.7813A>C MANE Select	NP_004361.3:p.Lys2605Gln
ENST00000322507.13:c.7813A>C MANE Select	ENSP00000325146.8:p.Lys2605Gln
NM_004370.5:c.7813A>C	NP_004361.3:p.Lys2605Gln
NM_080645.2:c.4321A>C	NP_542376.2:p.Lys1441Gln
NM_080645.3:c.4321A>C	NP_542376.2:p.Lys1441Gln
ENST00000322507.12:c.7813A>C	ENSP00000325146.8:p.Lys2605Gln
ENST00000345356.10:c.4321A>C	ENSP00000305147.9:p.Lys1441Gln
ENST00000416123.6:c.7813A>C	ENSP00000412864.2:p.Lys2605Gln
ENST00000425443.6:c.727A>C	ENSP00000399812.2:p.Lys243Gln
ENST00000483888.6:c.7813A>C	ENSP00000421216.1:p.Lys2605Gln
ENST00000493109.2:c.475A>C	ENSP00000423423.1:p.Lys159Gln
ENST00000615798.4:c.4246A>C	ENSP00000483232.1:p.Lys1416Gln
XM_011535434.1:c.7813A>C	XP_011533736.1:p.Lys2605Gln
XM_011535435.1:c.7540A>C	XP_011533737.1:p.Lys2514Gln
XM_011535436.1:c.4321A>C	XP_011533738.1:p.Lys1441Gln
XM_011535436.2:c.4321A>C	XP_011533738.1:p.Lys1441Gln
XM_017010252.2:c.7777A>C	XP_016865741.1:p.Lys2593Gln