Canonical Allele Identifier: CA400228674

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199931G>T , CM000679.2:g.50199931G>T	GRCh38
NC_000017.10:g.48277292G>T , CM000679.1:g.48277292G>T	GRCh37
NC_000017.9:g.45632291G>T	NCBI36
NG_007400.1:g.6709C>A , LRG_1:g.6709C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.120C>A MANE Select	NP_000079.2:p.Cys40Ter
ENST00000225964.10:c.120C>A MANE Select	ENSP00000225964.6:p.Cys40Ter
NM_000088.3:c.120C>A , LRG_1t1:c.120C>A	NP_000079.2:p.Cys40Ter
ENST00000225964.9:c.120C>A	ENSP00000225964.5:p.Cys40Ter
ENST00000474644.1:n.239C>A
ENST00000507689.1:c.174C>A	ENSP00000460459.1:p.Cys58Ter
XM_005257058.3:c.120C>A	XP_005257115.2:p.Cys40Ter
XM_005257058.4:c.120C>A	XP_005257115.2:p.Cys40Ter
XM_005257059.3:c.120C>A	XP_005257116.2:p.Cys40Ter
XM_005257059.4:c.120C>A	XP_005257116.2:p.Cys40Ter
XM_011524341.1:c.120C>A	XP_011522643.1:p.Cys40Ter