Canonical Allele Identifier: CA202470

Gene: COL1A1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192029G>T , CM000679.2:g.50192029G>T	GRCh38
NC_000017.10:g.48269390G>T , CM000679.1:g.48269390G>T	GRCh37
NC_000017.9:g.45624389G>T	NCBI36
NG_007400.1:g.14611C>A , LRG_1:g.14611C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1984-5C>A MANE Select	ENSP00000225964.6:n.1984-5C>A
ENST00000225964.9:c.1984-5C>A	ENSP00000225964.5:n.1984-5C>A
ENST00000476387.1:n.333-5C>A
ENST00000504289.1:n.411C>A
NM_000088.3:c.1984-5C>A , LRG_1t1:c.1984-5C>A	NP_000079.2:n.1984-5C>A
XM_005257058.3:c.1984-5C>A	XP_005257115.2:n.1984-5C>A
XM_005257059.3:c.1066-5C>A	XP_005257116.2:n.1066-5C>A
XM_011524341.1:c.1786-5C>A	XP_011522643.1:n.1786-5C>A
XM_005257058.4:c.1984-5C>A	XP_005257115.2:n.1984-5C>A
XM_005257059.4:c.1066-5C>A	XP_005257116.2:n.1066-5C>A
NM_000088.4:c.1984-5C>A MANE Select	NP_000079.2:n.1984-5C>A