Canonical Allele Identifier: CA257905

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 17332
• ClinVar RCV Id: RCV000018873 ; RCV003517128
• dbSNP Id: rs72656353
• MyVariant Identifiers: chr17:g.48262867A>G (hg19) ; chr17:g.50185506A>G (hg38)
• PubMed: PMID:8723681

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185506A>G , CM000679.2:g.50185506A>G	GRCh38
NC_000017.10:g.48262867A>G , CM000679.1:g.48262867A>G	GRCh37
NC_000017.9:g.45617866A>G	NCBI36
NG_007400.1:g.21134T>C , LRG_1:g.21134T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4391T>C MANE Select	ENSP00000225964.6:p.Leu1464Pro
ENST00000225964.9:c.4391T>C	ENSP00000225964.5:p.Leu1464Pro
NM_000088.3:c.4391T>C , LRG_1t1:c.4391T>C	NP_000079.2:p.Leu1464Pro
XM_005257058.3:c.4121T>C	XP_005257115.2:p.Leu1374Pro
XM_005257059.3:c.3473T>C	XP_005257116.2:p.Leu1158Pro
XM_011524341.1:c.4193T>C	XP_011522643.1:p.Leu1398Pro
XM_005257058.4:c.4121T>C	XP_005257115.2:p.Leu1374Pro
XM_005257059.4:c.3473T>C	XP_005257116.2:p.Leu1158Pro
NM_000088.4:c.4391T>C MANE Select	NP_000079.2:p.Leu1464Pro