Canonical Allele Identifier: CA3892559

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75117463C>T , CM000668.2:g.75117463C>T	GRCh38
NC_000006.11:g.75827179C>T , CM000668.1:g.75827179C>T	GRCh37
NC_000006.10:g.75883899C>T	NCBI36
NG_042181.1:g.93445G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.7438G>A MANE Select	NP_004361.3:p.Val2480Met
ENST00000322507.13:c.7438G>A MANE Select	ENSP00000325146.8:p.Val2480Met
NM_004370.5:c.7438G>A	NP_004361.3:p.Val2480Met
NM_080645.2:c.3946G>A	NP_542376.2:p.Val1316Met
NM_080645.3:c.3946G>A	NP_542376.2:p.Val1316Met
ENST00000322507.12:c.7438G>A	ENSP00000325146.8:p.Val2480Met
ENST00000345356.10:c.3946G>A	ENSP00000305147.9:p.Val1316Met
ENST00000416123.6:c.7438G>A	ENSP00000412864.2:p.Val2480Met
ENST00000425443.6:c.352G>A	ENSP00000399812.2:p.Val118Met
ENST00000483888.6:c.7438G>A	ENSP00000421216.1:p.Val2480Met
ENST00000493109.2:c.100G>A	ENSP00000423423.1:p.Val34Met
ENST00000615798.4:c.3871G>A	ENSP00000483232.1:p.Val1291Met
XM_011535434.1:c.7438G>A	XP_011533736.1:p.Val2480Met
XM_011535435.1:c.7165G>A	XP_011533737.1:p.Val2389Met
XM_011535436.1:c.3946G>A	XP_011533738.1:p.Val1316Met
XM_011535436.2:c.3946G>A	XP_011533738.1:p.Val1316Met
XM_017010252.2:c.7402G>A	XP_016865741.1:p.Val2468Met