Canonical Allele Identifier: CA291544088

Gene: COL1A1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50191978A>C , CM000679.2:g.50191978A>C	GRCh38
NC_000017.10:g.48269339A>C , CM000679.1:g.48269339A>C	GRCh37
NC_000017.9:g.45624338A>C	NCBI36
NG_007400.1:g.14662T>G , LRG_1:g.14662T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.2028+2T>G MANE Select	ENSP00000225964.6:n.2028+2T>G
ENST00000225964.9:c.2028+2T>G	ENSP00000225964.5:n.2028+2T>G
ENST00000476387.1:n.377+2T>G
ENST00000504289.1:n.460+2T>G
NM_000088.3:c.2028+2T>G , LRG_1t1:c.2028+2T>G	NP_000079.2:n.2028+2T>G
XM_005257058.3:c.2028+2T>G	XP_005257115.2:n.2028+2T>G
XM_005257059.3:c.1110+2T>G	XP_005257116.2:n.1110+2T>G
XM_011524341.1:c.1830+2T>G	XP_011522643.1:n.1830+2T>G
XM_005257058.4:c.2028+2T>G	XP_005257115.2:n.2028+2T>G
XM_005257059.4:c.1110+2T>G	XP_005257116.2:n.1110+2T>G
NM_000088.4:c.2028+2T>G MANE Select	NP_000079.2:n.2028+2T>G