Canonical Allele Identifier: CA400192106

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2412969
• ClinVar RCV Id: RCV003109984
• MyVariant Identifiers: chr17:g.48263269C>G (hg19) ; chr17:g.50185908C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185908C>G , CM000679.2:g.50185908C>G	GRCh38
NC_000017.10:g.48263269C>G , CM000679.1:g.48263269C>G	GRCh37
NC_000017.9:g.45618268C>G	NCBI36
NG_007400.1:g.20732G>C , LRG_1:g.20732G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4118G>C MANE Select	ENSP00000225964.6:p.Ser1373Thr
ENST00000225964.9:c.4118G>C	ENSP00000225964.5:p.Ser1373Thr
ENST00000510710.3:n.1083G>C
NM_000088.3:c.4118G>C , LRG_1t1:c.4118G>C	NP_000079.2:p.Ser1373Thr
XM_005257058.3:c.3848G>C	XP_005257115.2:p.Ser1283Thr
XM_005257059.3:c.3200G>C	XP_005257116.2:p.Ser1067Thr
XM_011524341.1:c.3920G>C	XP_011522643.1:p.Ser1307Thr
XM_005257058.4:c.3848G>C	XP_005257115.2:p.Ser1283Thr
XM_005257059.4:c.3200G>C	XP_005257116.2:p.Ser1067Thr
NM_000088.4:c.4118G>C MANE Select	NP_000079.2:p.Ser1373Thr