Canonical Allele Identifier: CA2580094164

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1739041
• ClinVar RCV Id: RCV002329816
• gnomAD v4: 17-50185773-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185773C>G , CM000679.2:g.50185773C>G	GRCh38
NC_000017.10:g.48263134C>G , CM000679.1:g.48263134C>G	GRCh37
NC_000017.9:g.45618133C>G	NCBI36
NG_007400.1:g.20867G>C , LRG_1:g.20867G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4248+5G>C MANE Select	ENSP00000225964.6:n.4248+5G>C
ENST00000225964.9:c.4248+5G>C	ENSP00000225964.5:n.4248+5G>C
NM_000088.3:c.4248+5G>C , LRG_1t1:c.4248+5G>C	NP_000079.2:n.4248+5G>C
XM_005257058.3:c.3978+5G>C	XP_005257115.2:n.3978+5G>C
XM_005257059.3:c.3330+5G>C	XP_005257116.2:n.3330+5G>C
XM_011524341.1:c.4050+5G>C	XP_011522643.1:n.4050+5G>C
XM_005257058.4:c.3978+5G>C	XP_005257115.2:n.3978+5G>C
XM_005257059.4:c.3330+5G>C	XP_005257116.2:n.3330+5G>C
NM_000088.4:c.4248+5G>C MANE Select	NP_000079.2:n.4248+5G>C