Canonical Allele Identifier: CA3892366

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75106428A>C , CM000668.2:g.75106428A>C	GRCh38
NC_000006.11:g.75816144A>C , CM000668.1:g.75816144A>C	GRCh37
NC_000006.10:g.75872864A>C	NCBI36
NG_042181.1:g.104480T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.8169T>G MANE Select	NP_004361.3:p.Ile2723Met
ENST00000322507.13:c.8169T>G MANE Select	ENSP00000325146.8:p.Ile2723Met
NM_004370.5:c.8169T>G	NP_004361.3:p.Ile2723Met
NM_080645.2:c.4677T>G	NP_542376.2:p.Ile1559Met
NM_080645.3:c.4677T>G	NP_542376.2:p.Ile1559Met
ENST00000322507.12:c.8169T>G	ENSP00000325146.8:p.Ile2723Met
ENST00000345356.10:c.4677T>G	ENSP00000305147.9:p.Ile1559Met
ENST00000416123.6:c.7951-1136T>G	ENSP00000412864.2:n.7951-1136T>G
ENST00000425443.6:c.1083T>G	ENSP00000399812.2:p.Ile361Met
ENST00000483888.6:c.8169T>G	ENSP00000421216.1:p.Ile2723Met
ENST00000615798.4:c.4602T>G	ENSP00000483232.1:p.Ile1534Met
XM_011535434.1:c.8169T>G	XP_011533736.1:p.Ile2723Met
XM_011535435.1:c.7896T>G	XP_011533737.1:p.Ile2632Met
XM_011535436.1:c.4677T>G	XP_011533738.1:p.Ile1559Met
XM_011535436.2:c.4677T>G	XP_011533738.1:p.Ile1559Met
XM_017010252.2:c.8133T>G	XP_016865741.1:p.Ile2711Met