Canonical Allele Identifier: CA8644167

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 649441
• ClinVar RCV Id: RCV000804378 ; RCV001555680
• dbSNP Id: rs767250343
• ExAC: 17:48262882 C / G
• gnomAD v2: 17-48262882-C-G
• gnomAD v3: 17-50185521-C-G
• gnomAD v4: 17-50185521-C-G
• MyVariant Identifiers: chr17:g.48262882C>G (hg19) ; chr17:g.50185521C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185521C>G , CM000679.2:g.50185521C>G	GRCh38
NC_000017.10:g.48262882C>G , CM000679.1:g.48262882C>G	GRCh37
NC_000017.9:g.45617881C>G	NCBI36
NG_007400.1:g.21119G>C , LRG_1:g.21119G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4376G>C MANE Select	ENSP00000225964.6:p.Gly1459Ala
ENST00000225964.9:c.4376G>C	ENSP00000225964.5:p.Gly1459Ala
NM_000088.3:c.4376G>C , LRG_1t1:c.4376G>C	NP_000079.2:p.Gly1459Ala
XM_005257058.3:c.4106G>C	XP_005257115.2:p.Gly1369Ala
XM_005257059.3:c.3458G>C	XP_005257116.2:p.Gly1153Ala
XM_011524341.1:c.4178G>C	XP_011522643.1:p.Gly1393Ala
XM_005257058.4:c.4106G>C	XP_005257115.2:p.Gly1369Ala
XM_005257059.4:c.3458G>C	XP_005257116.2:p.Gly1153Ala
NM_000088.4:c.4376G>C MANE Select	NP_000079.2:p.Gly1459Ala