Canonical Allele Identifier: CA8644512

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188110C>T , CM000679.2:g.50188110C>T	GRCh38
NC_000017.10:g.48265471C>T , CM000679.1:g.48265471C>T	GRCh37
NC_000017.9:g.45620470C>T	NCBI36
NG_007400.1:g.18530G>A , LRG_1:g.18530G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3247G>A MANE Select	NP_000079.2:p.Ala1083Thr
ENST00000225964.10:c.3247G>A MANE Select	ENSP00000225964.6:p.Ala1083Thr
NM_000088.3:c.3247G>A , LRG_1t1:c.3247G>A	NP_000079.2:p.Ala1083Thr
ENST00000225964.9:c.3247G>A	ENSP00000225964.5:p.Ala1083Thr
ENST00000486572.1:n.445G>A
ENST00000511732.1:n.571G>A
XM_005257058.3:c.2977G>A	XP_005257115.2:p.Ala993Thr
XM_005257058.4:c.2977G>A	XP_005257115.2:p.Ala993Thr
XM_005257059.3:c.2329G>A	XP_005257116.2:p.Ala777Thr
XM_005257059.4:c.2329G>A	XP_005257116.2:p.Ala777Thr
XM_011524341.1:c.3049G>A	XP_011522643.1:p.Ala1017Thr