Canonical Allele Identifier: CA291543900

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50190876C>T , CM000679.2:g.50190876C>T	GRCh38
NC_000017.10:g.48268237C>T , CM000679.1:g.48268237C>T	GRCh37
NC_000017.9:g.45623236C>T	NCBI36
NG_007400.1:g.15764G>A , LRG_1:g.15764G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.2284G>A MANE Select	NP_000079.2:p.Val762Ile
ENST00000225964.10:c.2284G>A MANE Select	ENSP00000225964.6:p.Val762Ile
NM_000088.3:c.2284G>A , LRG_1t1:c.2284G>A	NP_000079.2:p.Val762Ile
ENST00000225964.9:c.2284G>A	ENSP00000225964.5:p.Val762Ile
ENST00000494334.1:n.49G>A
XM_005257058.3:c.2284G>A	XP_005257115.2:p.Val762Ile
XM_005257058.4:c.2284G>A	XP_005257115.2:p.Val762Ile
XM_005257059.3:c.1366G>A	XP_005257116.2:p.Val456Ile
XM_005257059.4:c.1366G>A	XP_005257116.2:p.Val456Ile
XM_011524341.1:c.2086G>A	XP_011522643.1:p.Val696Ile