Canonical Allele Identifier: CA3893444

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75146217A>G , CM000668.2:g.75146217A>G	GRCh38
NC_000006.11:g.75855933A>G , CM000668.1:g.75855933A>G	GRCh37
NC_000006.10:g.75912653A>G	NCBI36
NG_042181.1:g.64691T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.4445T>C MANE Select	NP_004361.3:p.Ile1482Thr
ENST00000322507.13:c.4445T>C MANE Select	ENSP00000325146.8:p.Ile1482Thr
NM_004370.5:c.4445T>C	NP_004361.3:p.Ile1482Thr
NM_080645.2:c.953T>C	NP_542376.2:p.Ile318Thr
NM_080645.3:c.953T>C	NP_542376.2:p.Ile318Thr
ENST00000322507.12:c.4445T>C	ENSP00000325146.8:p.Ile1482Thr
ENST00000345356.10:c.953T>C	ENSP00000305147.9:p.Ile318Thr
ENST00000416123.6:c.4445T>C	ENSP00000412864.2:p.Ile1482Thr
ENST00000419671.1:c.669T>C
ENST00000474564.1:n.69T>C
ENST00000483888.6:c.4445T>C	ENSP00000421216.1:p.Ile1482Thr
ENST00000615798.4:c.878T>C	ENSP00000483232.1:p.Ile293Thr
XM_011535434.1:c.4445T>C	XP_011533736.1:p.Ile1482Thr
XM_011535435.1:c.4172T>C	XP_011533737.1:p.Ile1391Thr
XM_011535436.1:c.953T>C	XP_011533738.1:p.Ile318Thr
XM_011535436.2:c.953T>C	XP_011533738.1:p.Ile318Thr
XM_017010252.2:c.4409T>C	XP_016865741.1:p.Ile1470Thr