Canonical Allele Identifier: CA257836

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 17294
• ClinVar RCV Id: RCV000018835
• dbSNP Id: rs72653154
• MyVariant Identifiers: chr17:g.48266791C>A (hg19) ; chr17:g.50189430C>A (hg38)
• PubMed: PMID:3198624 ; PMID:3667599

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50189430C>A , CM000679.2:g.50189430C>A	GRCh38
NC_000017.10:g.48266791C>A , CM000679.1:g.48266791C>A	GRCh37
NC_000017.9:g.45621790C>A	NCBI36
NG_007400.1:g.17210G>T , LRG_1:g.17210G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.2776G>T MANE Select	ENSP00000225964.6:p.Gly926Cys
ENST00000225964.9:c.2776G>T	ENSP00000225964.5:p.Gly926Cys
NM_000088.3:c.2776G>T , LRG_1t1:c.2776G>T	NP_000079.2:p.Gly926Cys
XM_005257058.3:c.2667+249G>T	XP_005257115.2:n.2667+249G>T
XM_005257059.3:c.1858G>T	XP_005257116.2:p.Gly620Cys
XM_011524341.1:c.2578G>T	XP_011522643.1:p.Gly860Cys
XM_005257058.4:c.2667+249G>T	XP_005257115.2:n.2667+249G>T
XM_005257059.4:c.1858G>T	XP_005257116.2:p.Gly620Cys
NM_000088.4:c.2776G>T MANE Select	NP_000079.2:p.Gly926Cys