Canonical Allele Identifier: CA364737349

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75097267G>A , CM000668.2:g.75097267G>A	GRCh38
NC_000006.11:g.75806983G>A , CM000668.1:g.75806983G>A	GRCh37
NC_000006.10:g.75863703G>A	NCBI36
NG_042181.1:g.113641C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.8563C>T MANE Select	NP_004361.3:p.Pro2855Ser
ENST00000322507.13:c.8563C>T MANE Select	ENSP00000325146.8:p.Pro2855Ser
NM_004370.5:c.8563C>T	NP_004361.3:p.Pro2855Ser
NM_080645.2:c.5071C>T	NP_542376.2:p.Pro1691Ser
NM_080645.3:c.5071C>T	NP_542376.2:p.Pro1691Ser
ENST00000322507.12:c.8563C>T	ENSP00000325146.8:p.Pro2855Ser
ENST00000345356.10:c.5071C>T	ENSP00000305147.9:p.Pro1691Ser
ENST00000416123.6:c.8335C>T	ENSP00000412864.2:p.Pro2779Ser
ENST00000425443.6:c.1477C>T	ENSP00000399812.2:p.Pro493Ser
ENST00000483888.6:c.8563C>T	ENSP00000421216.1:p.Pro2855Ser
ENST00000511023.1:n.178C>T
ENST00000615798.4:c.4996C>T	ENSP00000483232.1:p.Pro1666Ser
XM_011535434.1:c.8563C>T	XP_011533736.1:p.Pro2855Ser
XM_011535435.1:c.8290C>T	XP_011533737.1:p.Pro2764Ser
XM_011535436.1:c.5071C>T	XP_011533738.1:p.Pro1691Ser
XM_011535436.2:c.5071C>T	XP_011533738.1:p.Pro1691Ser
XM_017010252.2:c.8527C>T	XP_016865741.1:p.Pro2843Ser