Canonical Allele Identifier: CA400212246

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50191988C>A , CM000679.2:g.50191988C>A	GRCh38
NC_000017.10:g.48269349C>A , CM000679.1:g.48269349C>A	GRCh37
NC_000017.9:g.45624348C>A	NCBI36
NG_007400.1:g.14652G>T , LRG_1:g.14652G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.2020G>T MANE Select	NP_000079.2:p.Gly674Ter
ENST00000225964.10:c.2020G>T MANE Select	ENSP00000225964.6:p.Gly674Ter
NM_000088.3:c.2020G>T , LRG_1t1:c.2020G>T	NP_000079.2:p.Gly674Ter
ENST00000225964.9:c.2020G>T	ENSP00000225964.5:p.Gly674Ter
ENST00000476387.1:n.369G>T
ENST00000504289.1:n.452G>T
XM_005257058.3:c.2020G>T	XP_005257115.2:p.Gly674Ter
XM_005257058.4:c.2020G>T	XP_005257115.2:p.Gly674Ter
XM_005257059.3:c.1102G>T	XP_005257116.2:p.Gly368Ter
XM_005257059.4:c.1102G>T	XP_005257116.2:p.Gly368Ter
XM_011524341.1:c.1822G>T	XP_011522643.1:p.Gly608Ter