Canonical Allele Identifier: CA8644967

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192003C>T , CM000679.2:g.50192003C>T	GRCh38
NC_000017.10:g.48269364C>T , CM000679.1:g.48269364C>T	GRCh37
NC_000017.9:g.45624363C>T	NCBI36
NG_007400.1:g.14637G>A , LRG_1:g.14637G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.2005G>A MANE Select	NP_000079.2:p.Ala669Thr
ENST00000225964.10:c.2005G>A MANE Select	ENSP00000225964.6:p.Ala669Thr
NM_000088.3:c.2005G>A , LRG_1t1:c.2005G>A	NP_000079.2:p.Ala669Thr
ENST00000225964.9:c.2005G>A	ENSP00000225964.5:p.Ala669Thr
ENST00000476387.1:n.354G>A
ENST00000504289.1:n.437G>A
XM_005257058.3:c.2005G>A	XP_005257115.2:p.Ala669Thr
XM_005257058.4:c.2005G>A	XP_005257115.2:p.Ala669Thr
XM_005257059.3:c.1087G>A	XP_005257116.2:p.Ala363Thr
XM_005257059.4:c.1087G>A	XP_005257116.2:p.Ala363Thr
XM_011524341.1:c.1807G>A	XP_011522643.1:p.Ala603Thr