Canonical Allele Identifier: CA400224312

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1420270
• ClinVar RCV Id: RCV001914150
• dbSNP Id: rs1907674004
• gnomAD v3: 17-50197227-C-T
• gnomAD v4: 17-50197227-C-T
• MyVariant Identifiers: chr17:g.48274588C>T (hg19) ; chr17:g.50197227C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50197227C>T , CM000679.2:g.50197227C>T	GRCh38
NC_000017.10:g.48274588C>T , CM000679.1:g.48274588C>T	GRCh37
NC_000017.9:g.45629587C>T	NCBI36
NG_007400.1:g.9413G>A , LRG_1:g.9413G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.703G>A MANE Select	ENSP00000225964.6:p.Ala235Thr
ENST00000225964.9:c.703G>A	ENSP00000225964.5:p.Ala235Thr
ENST00000495677.1:n.430G>A
NM_000088.3:c.703G>A , LRG_1t1:c.703G>A	NP_000079.2:p.Ala235Thr
XM_005257058.3:c.703G>A	XP_005257115.2:p.Ala235Thr
XM_005257059.3:c.703G>A	XP_005257116.2:p.Ala235Thr
XM_011524341.1:c.703G>A	XP_011522643.1:p.Ala235Thr
XM_005257058.4:c.703G>A	XP_005257115.2:p.Ala235Thr
XM_005257059.4:c.703G>A	XP_005257116.2:p.Ala235Thr
NM_000088.4:c.703G>A MANE Select	NP_000079.2:p.Ala235Thr