Canonical Allele Identifier: CA8644300

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186328C>T , CM000679.2:g.50186328C>T	GRCh38
NC_000017.10:g.48263689C>T , CM000679.1:g.48263689C>T	GRCh37
NC_000017.9:g.45618688C>T	NCBI36
NG_007400.1:g.20312G>A , LRG_1:g.20312G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3994G>A MANE Select	NP_000079.2:p.Asp1332Asn
ENST00000225964.10:c.3994G>A MANE Select	ENSP00000225964.6:p.Asp1332Asn
NM_000088.3:c.3994G>A , LRG_1t1:c.3994G>A	NP_000079.2:p.Asp1332Asn
ENST00000225964.9:c.3994G>A	ENSP00000225964.5:p.Asp1332Asn
ENST00000510710.3:n.663G>A
XM_005257058.3:c.3724G>A	XP_005257115.2:p.Asp1242Asn
XM_005257058.4:c.3724G>A	XP_005257115.2:p.Asp1242Asn
XM_005257059.3:c.3076G>A	XP_005257116.2:p.Asp1026Asn
XM_005257059.4:c.3076G>A	XP_005257116.2:p.Asp1026Asn
XM_011524341.1:c.3796G>A	XP_011522643.1:p.Asp1266Asn