Canonical Allele Identifier: CA500852186

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1598386
• ClinVar RCV Id: RCV002120389 ; RCV002331752
• dbSNP Id: rs2144591197
• MyVariant Identifiers: chr17:g.48276644A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199283A>C , CM000679.2:g.50199283A>C	GRCh38
NC_000017.10:g.48276644A>C , CM000679.1:g.48276644A>C	GRCh37
NC_000017.9:g.45631643A>C	NCBI36
NG_007400.1:g.7357T>G , LRG_1:g.7357T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.414T>G MANE Select	ENSP00000225964.6:p.Pro138=
ENST00000225964.9:c.414T>G	ENSP00000225964.5:p.Pro138=
ENST00000474644.1:n.635T>G
NM_000088.3:c.414T>G , LRG_1t1:c.414T>G	NP_000079.2:p.Pro138=
XM_005257058.3:c.414T>G	XP_005257115.2:p.Pro138=
XM_005257059.3:c.414T>G	XP_005257116.2:p.Pro138=
XM_011524341.1:c.414T>G	XP_011522643.1:p.Pro138=
XM_005257058.4:c.414T>G	XP_005257115.2:p.Pro138=
XM_005257059.4:c.414T>G	XP_005257116.2:p.Pro138=
NM_000088.4:c.414T>G MANE Select	NP_000079.2:p.Pro138=