Canonical Allele Identifier: CA364733219

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75087744G>A , CM000668.2:g.75087744G>A	GRCh38
NC_000006.11:g.75797460G>A , CM000668.1:g.75797460G>A	GRCh37
NC_000006.10:g.75854180G>A	NCBI36
NG_042181.1:g.123164C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322507.13:c.9014C>T MANE Select	ENSP00000325146.8:p.Pro3005Leu
ENST00000680981.1:n.423C>T
ENST00000681086.1:n.797C>T
ENST00000322507.12:c.9014C>T	ENSP00000325146.8:p.Pro3005Leu
ENST00000345356.10:c.5522C>T	ENSP00000305147.9:p.Pro1841Leu
ENST00000416123.6:c.8786C>T	ENSP00000412864.2:p.Pro2929Leu
ENST00000425443.6:c.1928C>T	ENSP00000399812.2:p.Pro643Leu
ENST00000483888.6:c.9002C>T	ENSP00000421216.1:p.Pro3001Leu
ENST00000615798.4:c.5447C>T	ENSP00000483232.1:p.Pro1816Leu
NM_004370.5:c.9014C>T	NP_004361.3:p.Pro3005Leu
NM_080645.2:c.5522C>T	NP_542376.2:p.Pro1841Leu
XM_011535434.1:c.9014C>T	XP_011533736.1:p.Pro3005Leu
XM_011535435.1:c.8741C>T	XP_011533737.1:p.Pro2914Leu
XM_011535436.1:c.5522C>T	XP_011533738.1:p.Pro1841Leu
XM_011535436.2:c.5522C>T	XP_011533738.1:p.Pro1841Leu
XM_017010252.2:c.8978C>T	XP_016865741.1:p.Pro2993Leu
NM_004370.6:c.9014C>T MANE Select	NP_004361.3:p.Pro3005Leu
NM_080645.3:c.5522C>T	NP_542376.2:p.Pro1841Leu