Canonical Allele Identifier: CA291542806

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185968G>T , CM000679.2:g.50185968G>T	GRCh38
NC_000017.10:g.48263329G>T , CM000679.1:g.48263329G>T	GRCh37
NC_000017.9:g.45618328G>T	NCBI36
NG_007400.1:g.20672C>A , LRG_1:g.20672C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.4058C>A MANE Select	NP_000079.2:p.Thr1353Asn
ENST00000225964.10:c.4058C>A MANE Select	ENSP00000225964.6:p.Thr1353Asn
NM_000088.3:c.4058C>A , LRG_1t1:c.4058C>A	NP_000079.2:p.Thr1353Asn
ENST00000225964.9:c.4058C>A	ENSP00000225964.5:p.Thr1353Asn
ENST00000510710.3:n.1023C>A
XM_005257058.3:c.3788C>A	XP_005257115.2:p.Thr1263Asn
XM_005257058.4:c.3788C>A	XP_005257115.2:p.Thr1263Asn
XM_005257059.3:c.3140C>A	XP_005257116.2:p.Thr1047Asn
XM_005257059.4:c.3140C>A	XP_005257116.2:p.Thr1047Asn
XM_011524341.1:c.3860C>A	XP_011522643.1:p.Thr1287Asn