Canonical Allele Identifier: CA8644268

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185996C>T , CM000679.2:g.50185996C>T	GRCh38
NC_000017.10:g.48263357C>T , CM000679.1:g.48263357C>T	GRCh37
NC_000017.9:g.45618356C>T	NCBI36
NG_007400.1:g.20644G>A , LRG_1:g.20644G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.4030G>A MANE Select	NP_000079.2:p.Asp1344Asn
ENST00000225964.10:c.4030G>A MANE Select	ENSP00000225964.6:p.Asp1344Asn
NM_000088.3:c.4030G>A , LRG_1t1:c.4030G>A	NP_000079.2:p.Asp1344Asn
ENST00000225964.9:c.4030G>A	ENSP00000225964.5:p.Asp1344Asn
ENST00000510710.3:n.995G>A
XM_005257058.3:c.3760G>A	XP_005257115.2:p.Asp1254Asn
XM_005257058.4:c.3760G>A	XP_005257115.2:p.Asp1254Asn
XM_005257059.3:c.3112G>A	XP_005257116.2:p.Asp1038Asn
XM_005257059.4:c.3112G>A	XP_005257116.2:p.Asp1038Asn
XM_011524341.1:c.3832G>A	XP_011522643.1:p.Asp1278Asn