Canonical Allele Identifier: CA400203250

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188777C>A , CM000679.2:g.50188777C>A	GRCh38
NC_000017.10:g.48266138C>A , CM000679.1:g.48266138C>A	GRCh37
NC_000017.9:g.45621137C>A	NCBI36
NG_007400.1:g.17863G>T , LRG_1:g.17863G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3064G>T MANE Select	NP_000079.2:p.Gly1022Cys
ENST00000225964.10:c.3064G>T MANE Select	ENSP00000225964.6:p.Gly1022Cys
NM_000088.3:c.3064G>T , LRG_1t1:c.3064G>T	NP_000079.2:p.Gly1022Cys
ENST00000225964.9:c.3064G>T	ENSP00000225964.5:p.Gly1022Cys
ENST00000511732.1:n.8G>T
XM_005257058.3:c.2794G>T	XP_005257115.2:p.Gly932Cys
XM_005257058.4:c.2794G>T	XP_005257115.2:p.Gly932Cys
XM_005257059.3:c.2146G>T	XP_005257116.2:p.Gly716Cys
XM_005257059.4:c.2146G>T	XP_005257116.2:p.Gly716Cys
XM_011524341.1:c.2866G>T	XP_011522643.1:p.Gly956Cys