Canonical Allele Identifier: CA127133

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 17315
• ClinVar RCV Id: RCV000018856
• dbSNP Id: rs66527965
• MyVariant Identifiers: chr17:g.48270399C>A (hg19) ; chr17:g.50193038C>A (hg38)
• PubMed: PMID:1770532 ; PMID:2794057

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193038C>A , CM000679.2:g.50193038C>A	GRCh38
NC_000017.10:g.48270399C>A , CM000679.1:g.48270399C>A	GRCh37
NC_000017.9:g.45625398C>A	NCBI36
NG_007400.1:g.13602G>T , LRG_1:g.13602G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1777G>T MANE Select	ENSP00000225964.6:p.Gly593Cys
ENST00000225964.9:c.1777G>T	ENSP00000225964.5:p.Gly593Cys
ENST00000476387.1:n.126G>T
NM_000088.3:c.1777G>T , LRG_1t1:c.1777G>T	NP_000079.2:p.Gly593Cys
XM_005257058.3:c.1777G>T	XP_005257115.2:p.Gly593Cys
XM_005257059.3:c.958-345G>T	XP_005257116.2:n.958-345G>T
XM_011524341.1:c.1579G>T	XP_011522643.1:p.Gly527Cys
XM_005257058.4:c.1777G>T	XP_005257115.2:p.Gly593Cys
XM_005257059.4:c.958-345G>T	XP_005257116.2:n.958-345G>T
NM_000088.4:c.1777G>T MANE Select	NP_000079.2:p.Gly593Cys