Canonical Allele Identifier: CA364747348

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75119049G>A , CM000668.2:g.75119049G>A	GRCh38
NC_000006.11:g.75828765G>A , CM000668.1:g.75828765G>A	GRCh37
NC_000006.10:g.75885485G>A	NCBI36
NG_042181.1:g.91859C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.7348C>T MANE Select	NP_004361.3:p.Gln2450Ter
ENST00000322507.13:c.7348C>T MANE Select	ENSP00000325146.8:p.Gln2450Ter
NM_004370.5:c.7348C>T	NP_004361.3:p.Gln2450Ter
NM_080645.2:c.3856C>T	NP_542376.2:p.Gln1286Ter
NM_080645.3:c.3856C>T	NP_542376.2:p.Gln1286Ter
ENST00000322507.12:c.7348C>T	ENSP00000325146.8:p.Gln2450Ter
ENST00000345356.10:c.3856C>T	ENSP00000305147.9:p.Gln1286Ter
ENST00000416123.6:c.7348C>T	ENSP00000412864.2:p.Gln2450Ter
ENST00000425443.6:c.262C>T	ENSP00000399812.2:p.Gln88Ter
ENST00000483888.6:c.7348C>T	ENSP00000421216.1:p.Gln2450Ter
ENST00000493109.2:c.10C>T	ENSP00000423423.1:p.Gln4Ter
ENST00000615798.4:c.3781C>T	ENSP00000483232.1:p.His1261Tyr
XM_011535434.1:c.7348C>T	XP_011533736.1:p.Gln2450Ter
XM_011535435.1:c.7075C>T	XP_011533737.1:p.Gln2359Ter
XM_011535436.1:c.3856C>T	XP_011533738.1:p.Gln1286Ter
XM_011535436.2:c.3856C>T	XP_011533738.1:p.Gln1286Ter
XM_017010252.2:c.7312C>T	XP_016865741.1:p.Gln2438Ter