Canonical Allele Identifier: CA3893223

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75138448G>A , CM000668.2:g.75138448G>A	GRCh38
NC_000006.11:g.75848164G>A , CM000668.1:g.75848164G>A	GRCh37
NC_000006.10:g.75904884G>A	NCBI36
NG_042181.1:g.72460C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.5230C>T MANE Select	NP_004361.3:p.Leu1744=
ENST00000322507.13:c.5230C>T MANE Select	ENSP00000325146.8:p.Leu1744=
NM_004370.5:c.5230C>T	NP_004361.3:p.Leu1744=
NM_080645.2:c.1738C>T	NP_542376.2:p.Leu580=
NM_080645.3:c.1738C>T	NP_542376.2:p.Leu580=
ENST00000322507.12:c.5230C>T	ENSP00000325146.8:p.Leu1744=
ENST00000345356.10:c.1738C>T	ENSP00000305147.9:p.Leu580=
ENST00000416123.6:c.5230C>T	ENSP00000412864.2:p.Leu1744=
ENST00000419671.1:c.1454C>T
ENST00000483888.6:c.5230C>T	ENSP00000421216.1:p.Leu1744=
ENST00000615798.4:c.1663C>T	ENSP00000483232.1:p.Leu555=
XM_011535434.1:c.5230C>T	XP_011533736.1:p.Leu1744=
XM_011535435.1:c.4957C>T	XP_011533737.1:p.Leu1653=
XM_011535436.1:c.1738C>T	XP_011533738.1:p.Leu580=
XM_011535436.2:c.1738C>T	XP_011533738.1:p.Leu580=
XM_017010252.2:c.5194C>T	XP_016865741.1:p.Leu1732=