Canonical Allele Identifier: CA141010796

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75113626G>A , CM000668.2:g.75113626G>A	GRCh38
NC_000006.11:g.75823342G>A , CM000668.1:g.75823342G>A	GRCh37
NC_000006.10:g.75880062G>A	NCBI36
NG_042181.1:g.97282C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.7816C>T MANE Select	NP_004361.3:p.Pro2606Ser
ENST00000322507.13:c.7816C>T MANE Select	ENSP00000325146.8:p.Pro2606Ser
NM_004370.5:c.7816C>T	NP_004361.3:p.Pro2606Ser
NM_080645.2:c.4324C>T	NP_542376.2:p.Pro1442Ser
NM_080645.3:c.4324C>T	NP_542376.2:p.Pro1442Ser
ENST00000322507.12:c.7816C>T	ENSP00000325146.8:p.Pro2606Ser
ENST00000345356.10:c.4324C>T	ENSP00000305147.9:p.Pro1442Ser
ENST00000416123.6:c.7816C>T	ENSP00000412864.2:p.Pro2606Ser
ENST00000425443.6:c.730C>T	ENSP00000399812.2:p.Pro244Ser
ENST00000483888.6:c.7816C>T	ENSP00000421216.1:p.Pro2606Ser
ENST00000493109.2:c.478C>T	ENSP00000423423.1:p.Pro160Ser
ENST00000615798.4:c.4249C>T	ENSP00000483232.1:p.Pro1417Ser
XM_011535434.1:c.7816C>T	XP_011533736.1:p.Pro2606Ser
XM_011535435.1:c.7543C>T	XP_011533737.1:p.Pro2515Ser
XM_011535436.1:c.4324C>T	XP_011533738.1:p.Pro1442Ser
XM_011535436.2:c.4324C>T	XP_011533738.1:p.Pro1442Ser
XM_017010252.2:c.7780C>T	XP_016865741.1:p.Pro2594Ser