Canonical Allele Identifier: CA3893394

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75145386T>C , CM000668.2:g.75145386T>C	GRCh38
NC_000006.11:g.75855102T>C , CM000668.1:g.75855102T>C	GRCh37
NC_000006.10:g.75911822T>C	NCBI36
NG_042181.1:g.65522A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.4630A>G MANE Select	NP_004361.3:p.Thr1544Ala
ENST00000322507.13:c.4630A>G MANE Select	ENSP00000325146.8:p.Thr1544Ala
NM_004370.5:c.4630A>G	NP_004361.3:p.Thr1544Ala
NM_080645.2:c.1138A>G	NP_542376.2:p.Thr380Ala
NM_080645.3:c.1138A>G	NP_542376.2:p.Thr380Ala
ENST00000322507.12:c.4630A>G	ENSP00000325146.8:p.Thr1544Ala
ENST00000345356.10:c.1138A>G	ENSP00000305147.9:p.Thr380Ala
ENST00000416123.6:c.4630A>G	ENSP00000412864.2:p.Thr1544Ala
ENST00000419671.1:c.854A>G
ENST00000474564.1:n.254A>G
ENST00000483888.6:c.4630A>G	ENSP00000421216.1:p.Thr1544Ala
ENST00000615798.4:c.1063A>G	ENSP00000483232.1:p.Thr355Ala
XM_011535434.1:c.4630A>G	XP_011533736.1:p.Thr1544Ala
XM_011535435.1:c.4357A>G	XP_011533737.1:p.Thr1453Ala
XM_011535436.1:c.1138A>G	XP_011533738.1:p.Thr380Ala
XM_011535436.2:c.1138A>G	XP_011533738.1:p.Thr380Ala
XM_017010252.2:c.4594A>G	XP_016865741.1:p.Thr1532Ala