Canonical Allele Identifier: CA400210712

Gene: COL1A1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50191382C>T , CM000679.2:g.50191382C>T	GRCh38
NC_000017.10:g.48268743C>T , CM000679.1:g.48268743C>T	GRCh37
NC_000017.9:g.45623742C>T	NCBI36
NG_007400.1:g.15258G>A , LRG_1:g.15258G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.2235+1G>A MANE Select	ENSP00000225964.6:n.2235+1G>A
ENST00000225964.9:c.2235+1G>A	ENSP00000225964.5:n.2235+1G>A
ENST00000476387.1:n.584+1G>A
NM_000088.3:c.2235+1G>A , LRG_1t1:c.2235+1G>A	NP_000079.2:n.2235+1G>A
XM_005257058.3:c.2235+1G>A	XP_005257115.2:n.2235+1G>A
XM_005257059.3:c.1317+1G>A	XP_005257116.2:n.1317+1G>A
XM_011524341.1:c.2037+1G>A	XP_011522643.1:n.2037+1G>A
XM_005257058.4:c.2235+1G>A	XP_005257115.2:n.2235+1G>A
XM_005257059.4:c.1317+1G>A	XP_005257116.2:n.1317+1G>A
NM_000088.4:c.2235+1G>A MANE Select	NP_000079.2:n.2235+1G>A