Canonical Allele Identifier: CA141002999

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75191710C>T , CM000668.2:g.75191710C>T	GRCh38
NC_000006.11:g.75901426C>T , CM000668.1:g.75901426C>T	GRCh37
NC_000006.10:g.75958146C>T	NCBI36
NG_042181.1:g.19198G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.385G>A MANE Select	NP_004361.3:p.Glu129Lys
ENST00000322507.13:c.385G>A MANE Select	ENSP00000325146.8:p.Glu129Lys
NM_004370.5:c.385G>A	NP_004361.3:p.Glu129Lys
NM_080645.2:c.73+11010G>A	NP_542376.2:n.73+11010G>A
NM_080645.3:c.73+11010G>A	NP_542376.2:n.73+11010G>A
ENST00000322507.12:c.385G>A	ENSP00000325146.8:p.Glu129Lys
ENST00000345356.10:c.73+11010G>A	ENSP00000305147.9:n.73+11010G>A
ENST00000416123.6:c.385G>A	ENSP00000412864.2:p.Glu129Lys
ENST00000483888.6:c.385G>A	ENSP00000421216.1:p.Glu129Lys
ENST00000615798.4:c.-3183G>A	ENSP00000483232.1:n.-3183G>A
XM_011535434.1:c.385G>A	XP_011533736.1:p.Glu129Lys
XM_011535435.1:c.385G>A	XP_011533737.1:p.Glu129Lys
XM_011535436.1:c.73+11010G>A	XP_011533738.1:n.73+11010G>A
XM_011535436.2:c.73+11010G>A	XP_011533738.1:n.73+11010G>A
XM_017010252.2:c.349G>A	XP_016865741.1:p.Glu117Lys