Canonical Allele Identifier: CA141000606

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75090238C>A , CM000668.2:g.75090238C>A	GRCh38
NC_000006.11:g.75799954C>A , CM000668.1:g.75799954C>A	GRCh37
NC_000006.10:g.75856674C>A	NCBI36
NG_042181.1:g.120670G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322507.13:c.8813G>T MANE Select	ENSP00000325146.8:p.Arg2938Leu
ENST00000680981.1:n.222G>T
ENST00000322507.12:c.8813G>T	ENSP00000325146.8:p.Arg2938Leu
ENST00000345356.10:c.5321G>T	ENSP00000305147.9:p.Arg1774Leu
ENST00000416123.6:c.8585G>T	ENSP00000412864.2:p.Arg2862Leu
ENST00000425443.6:c.1727G>T	ENSP00000399812.2:p.Arg576Leu
ENST00000483888.6:c.8801G>T	ENSP00000421216.1:p.Arg2934Leu
ENST00000511023.1:n.428G>T
ENST00000615798.4:c.5246G>T	ENSP00000483232.1:p.Arg1749Leu
NM_004370.5:c.8813G>T	NP_004361.3:p.Arg2938Leu
NM_080645.2:c.5321G>T	NP_542376.2:p.Arg1774Leu
XM_011535434.1:c.8813G>T	XP_011533736.1:p.Arg2938Leu
XM_011535435.1:c.8540G>T	XP_011533737.1:p.Arg2847Leu
XM_011535436.1:c.5321G>T	XP_011533738.1:p.Arg1774Leu
XM_011535436.2:c.5321G>T	XP_011533738.1:p.Arg1774Leu
XM_017010252.2:c.8777G>T	XP_016865741.1:p.Arg2926Leu
NM_004370.6:c.8813G>T MANE Select	NP_004361.3:p.Arg2938Leu
NM_080645.3:c.5321G>T	NP_542376.2:p.Arg1774Leu