Canonical Allele Identifier: CA3893247

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75138562C>T , CM000668.2:g.75138562C>T	GRCh38
NC_000006.11:g.75848278C>T , CM000668.1:g.75848278C>T	GRCh37
NC_000006.10:g.75904998C>T	NCBI36
NG_042181.1:g.72346G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.5116G>A MANE Select	NP_004361.3:p.Glu1706Lys
ENST00000322507.13:c.5116G>A MANE Select	ENSP00000325146.8:p.Glu1706Lys
NM_004370.5:c.5116G>A	NP_004361.3:p.Glu1706Lys
NM_080645.2:c.1624G>A	NP_542376.2:p.Glu542Lys
NM_080645.3:c.1624G>A	NP_542376.2:p.Glu542Lys
ENST00000322507.12:c.5116G>A	ENSP00000325146.8:p.Glu1706Lys
ENST00000345356.10:c.1624G>A	ENSP00000305147.9:p.Glu542Lys
ENST00000416123.6:c.5116G>A	ENSP00000412864.2:p.Glu1706Lys
ENST00000419671.1:c.1340G>A
ENST00000483888.6:c.5116G>A	ENSP00000421216.1:p.Glu1706Lys
ENST00000615798.4:c.1549G>A	ENSP00000483232.1:p.Glu517Lys
XM_011535434.1:c.5116G>A	XP_011533736.1:p.Glu1706Lys
XM_011535435.1:c.4843G>A	XP_011533737.1:p.Glu1615Lys
XM_011535436.1:c.1624G>A	XP_011533738.1:p.Glu542Lys
XM_011535436.2:c.1624G>A	XP_011533738.1:p.Glu542Lys
XM_017010252.2:c.5080G>A	XP_016865741.1:p.Glu1694Lys