Canonical Allele Identifier: CA4159123

Gene: COL28A1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7373261T>A , CM000669.2:g.7373261T>A	GRCh38
NC_000007.13:g.7412892T>A , CM000669.1:g.7412892T>A	GRCh37
NC_000007.12:g.7379417T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001037763.3:c.2645A>T MANE Select	NP_001032852.2:p.Gln882Leu
ENST00000399429.8:c.2645A>T MANE Select	ENSP00000382356.3:p.Gln882Leu
NM_001037763.2:c.2645A>T	NP_001032852.2:p.Gln882Leu
ENST00000399429.7:c.2645A>T	ENSP00000382356.3:p.Gln882Leu
XM_011515358.1:c.2645A>T	XP_011513660.1:p.Gln882Leu
XM_011515358.3:c.2645A>T	XP_011513660.1:p.Gln882Leu
XM_011515359.1:c.2645A>T	XP_011513661.1:p.Gln882Leu
XM_011515359.2:c.2645A>T	XP_011513661.1:p.Gln882Leu
XM_011515360.1:c.2645A>T	XP_011513662.1:p.Gln882Leu
XM_011515360.2:c.2645A>T	XP_011513662.1:p.Gln882Leu
XM_011515362.1:c.1496A>T	XP_011513664.1:p.Gln499Leu
XM_011515362.2:c.1496A>T	XP_011513664.1:p.Gln499Leu
XM_017012131.2:c.2645A>T	XP_016867620.1:p.Gln882Leu
XM_017012132.2:c.2645A>T	XP_016867621.1:p.Gln882Leu
XR_001744688.1:n.4271A>T
XR_926936.1:n.2848A>T
XR_926936.3:n.4047A>T