Canonical Allele Identifier: CA291543079

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188759C>T , CM000679.2:g.50188759C>T	GRCh38
NC_000017.10:g.48266120C>T , CM000679.1:g.48266120C>T	GRCh37
NC_000017.9:g.45621119C>T	NCBI36
NG_007400.1:g.17881G>A , LRG_1:g.17881G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3082G>A MANE Select	NP_000079.2:p.Gly1028Ser
ENST00000225964.10:c.3082G>A MANE Select	ENSP00000225964.6:p.Gly1028Ser
NM_000088.3:c.3082G>A , LRG_1t1:c.3082G>A	NP_000079.2:p.Gly1028Ser
ENST00000225964.9:c.3082G>A	ENSP00000225964.5:p.Gly1028Ser
ENST00000511732.1:n.26G>A
XM_005257058.3:c.2812G>A	XP_005257115.2:p.Gly938Ser
XM_005257058.4:c.2812G>A	XP_005257115.2:p.Gly938Ser
XM_005257059.3:c.2164G>A	XP_005257116.2:p.Gly722Ser
XM_005257059.4:c.2164G>A	XP_005257116.2:p.Gly722Ser
XM_011524341.1:c.2884G>A	XP_011522643.1:p.Gly962Ser