Canonical Allele Identifier: CA257851

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 17299
• ClinVar RCV Id: RCV000018840
• dbSNP Id: rs72656303
• MyVariant Identifiers: chr17:g.48265474C>A (hg19) ; chr17:g.50188113C>A (hg38)
• PubMed: PMID:2220807 ; PMID:2309707 ; PMID:2339700 ; PMID:2913053

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188113C>A , CM000679.2:g.50188113C>A	GRCh38
NC_000017.10:g.48265474C>A , CM000679.1:g.48265474C>A	GRCh37
NC_000017.9:g.45620473C>A	NCBI36
NG_007400.1:g.18527G>T , LRG_1:g.18527G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3244G>T MANE Select	ENSP00000225964.6:p.Gly1082Cys
ENST00000225964.9:c.3244G>T	ENSP00000225964.5:p.Gly1082Cys
ENST00000486572.1:n.442G>T
ENST00000511732.1:n.568G>T
NM_000088.3:c.3244G>T , LRG_1t1:c.3244G>T	NP_000079.2:p.Gly1082Cys
XM_005257058.3:c.2974G>T	XP_005257115.2:p.Gly992Cys
XM_005257059.3:c.2326G>T	XP_005257116.2:p.Gly776Cys
XM_011524341.1:c.3046G>T	XP_011522643.1:p.Gly1016Cys
XM_005257058.4:c.2974G>T	XP_005257115.2:p.Gly992Cys
XM_005257059.4:c.2326G>T	XP_005257116.2:p.Gly776Cys
NM_000088.4:c.3244G>T MANE Select	NP_000079.2:p.Gly1082Cys