Canonical Allele Identifier: CA291542850

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186416G>A , CM000679.2:g.50186416G>A	GRCh38
NC_000017.10:g.48263777G>A , CM000679.1:g.48263777G>A	GRCh37
NC_000017.9:g.45618776G>A	NCBI36
NG_007400.1:g.20224C>T , LRG_1:g.20224C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3906C>T MANE Select	ENSP00000225964.6:p.Pro1302=
ENST00000225964.9:c.3906C>T	ENSP00000225964.5:p.Pro1302=
ENST00000510710.3:n.575C>T
NM_000088.3:c.3906C>T , LRG_1t1:c.3906C>T	NP_000079.2:p.Pro1302=
XM_005257058.3:c.3636C>T	XP_005257115.2:p.Pro1212=
XM_005257059.3:c.2988C>T	XP_005257116.2:p.Pro996=
XM_011524341.1:c.3708C>T	XP_011522643.1:p.Pro1236=
XM_005257058.4:c.3636C>T	XP_005257115.2:p.Pro1212=
XM_005257059.4:c.2988C>T	XP_005257116.2:p.Pro996=
NM_000088.4:c.3906C>T MANE Select	NP_000079.2:p.Pro1302=