Canonical Allele Identifier: CA400190214

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 3061969
• ClinVar RCV Id: RCV003985011
• MyVariant Identifiers: chr17:g.48262916C>G (hg19) ; chr17:g.50185555C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185555C>G , CM000679.2:g.50185555C>G	GRCh38
NC_000017.10:g.48262916C>G , CM000679.1:g.48262916C>G	GRCh37
NC_000017.9:g.45617915C>G	NCBI36
NG_007400.1:g.21085G>C , LRG_1:g.21085G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4342G>C MANE Select	ENSP00000225964.6:p.Gly1448Arg
ENST00000225964.9:c.4342G>C	ENSP00000225964.5:p.Gly1448Arg
NM_000088.3:c.4342G>C , LRG_1t1:c.4342G>C	NP_000079.2:p.Gly1448Arg
XM_005257058.3:c.4072G>C	XP_005257115.2:p.Gly1358Arg
XM_005257059.3:c.3424G>C	XP_005257116.2:p.Gly1142Arg
XM_011524341.1:c.4144G>C	XP_011522643.1:p.Gly1382Arg
XM_005257058.4:c.4072G>C	XP_005257115.2:p.Gly1358Arg
XM_005257059.4:c.3424G>C	XP_005257116.2:p.Gly1142Arg
NM_000088.4:c.4342G>C MANE Select	NP_000079.2:p.Gly1448Arg