Canonical Allele Identifier: CA400227768

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199555C>A , CM000679.2:g.50199555C>A	GRCh38
NC_000017.10:g.48276916C>A , CM000679.1:g.48276916C>A	GRCh37
NC_000017.9:g.45631915C>A	NCBI36
NG_007400.1:g.7085G>T , LRG_1:g.7085G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.333+1G>T MANE Select	NP_000079.2:n.333+1G>T
ENST00000225964.10:c.333+1G>T MANE Select	ENSP00000225964.6:n.333+1G>T
NM_000088.3:c.333+1G>T , LRG_1t1:c.333+1G>T	NP_000079.2:n.333+1G>T
ENST00000225964.9:c.333+1G>T	ENSP00000225964.5:n.333+1G>T
ENST00000474644.1:n.453G>T
ENST00000507689.1:c.387+1G>T	ENSP00000460459.1:n.387+1G>T
XM_005257058.3:c.333+1G>T	XP_005257115.2:n.333+1G>T
XM_005257058.4:c.333+1G>T	XP_005257115.2:n.333+1G>T
XM_005257059.3:c.333+1G>T	XP_005257116.2:n.333+1G>T
XM_005257059.4:c.333+1G>T	XP_005257116.2:n.333+1G>T
XM_011524341.1:c.333+1G>T	XP_011522643.1:n.333+1G>T