Canonical Allele Identifier: CA2581314052

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195594A= , CM000679.2:g.50195594A=	GRCh38
NC_000017.10:g.48272955A= , CM000679.1:g.48272955A=	GRCh37
NC_000017.9:g.45627954A=	NCBI36
NG_007400.1:g.11046T= , LRG_1:g.11046T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1128T= MANE Select	ENSP00000225964.6:p.Pro376=
ENST00000225964.9:c.1128T=	ENSP00000225964.5:p.Pro376=
ENST00000471344.1:n.72T=
NM_000088.3:c.1128T= , LRG_1t1:c.1128T=	NP_000079.2:p.Pro376=
XM_005257058.3:c.1128T=	XP_005257115.2:p.Pro376=
XM_005257059.3:c.957+720T=	XP_005257116.2:n.957+720T=
XM_011524341.1:c.958-116T=	XP_011522643.1:n.958-116T=
XM_005257058.4:c.1128T=	XP_005257115.2:p.Pro376=
XM_005257059.4:c.957+720T=	XP_005257116.2:n.957+720T=
NM_000088.4:c.1128T= MANE Select	NP_000079.2:p.Pro376=