Canonical Allele Identifier: CA3893081

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75133937A>G , CM000668.2:g.75133937A>G	GRCh38
NC_000006.11:g.75843653A>G , CM000668.1:g.75843653A>G	GRCh37
NC_000006.10:g.75900373A>G	NCBI36
NG_042181.1:g.76971T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.5585T>C MANE Select	NP_004361.3:p.Val1862Ala
ENST00000322507.13:c.5585T>C MANE Select	ENSP00000325146.8:p.Val1862Ala
NM_004370.5:c.5585T>C	NP_004361.3:p.Val1862Ala
NM_080645.2:c.2093T>C	NP_542376.2:p.Val698Ala
NM_080645.3:c.2093T>C	NP_542376.2:p.Val698Ala
ENST00000322507.12:c.5585T>C	ENSP00000325146.8:p.Val1862Ala
ENST00000345356.10:c.2093T>C	ENSP00000305147.9:p.Val698Ala
ENST00000416123.6:c.5585T>C	ENSP00000412864.2:p.Val1862Ala
ENST00000419671.1:c.1788T>C
ENST00000483888.6:c.5585T>C	ENSP00000421216.1:p.Val1862Ala
ENST00000615798.4:c.2018T>C	ENSP00000483232.1:p.Val673Ala
XM_011535434.1:c.5585T>C	XP_011533736.1:p.Val1862Ala
XM_011535435.1:c.5312T>C	XP_011533737.1:p.Val1771Ala
XM_011535436.1:c.2093T>C	XP_011533738.1:p.Val698Ala
XM_011535436.2:c.2093T>C	XP_011533738.1:p.Val698Ala
XM_017010252.2:c.5549T>C	XP_016865741.1:p.Val1850Ala