Canonical Allele Identifier: CA772776383

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1313733
• ClinVar RCV Id: RCV001769379 ; RCV001868606
• dbSNP Id: rs1276599083
• gnomAD v3: 17-50199220-A-G
• gnomAD v4: 17-50199220-A-G
• MyVariant Identifiers: chr17:g.48276581A>G (hg19) ; chr17:g.50199220A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199220A>G , CM000679.2:g.50199220A>G	GRCh38
NC_000017.10:g.48276581A>G , CM000679.1:g.48276581A>G	GRCh37
NC_000017.9:g.45631580A>G	NCBI36
NG_007400.1:g.7420T>C , LRG_1:g.7420T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.471+6T>C MANE Select	ENSP00000225964.6:n.471+6T>C
ENST00000225964.9:c.471+6T>C	ENSP00000225964.5:n.471+6T>C
NM_000088.3:c.471+6T>C , LRG_1t1:c.471+6T>C	NP_000079.2:n.471+6T>C
XM_005257058.3:c.471+6T>C	XP_005257115.2:n.471+6T>C
XM_005257059.3:c.471+6T>C	XP_005257116.2:n.471+6T>C
XM_011524341.1:c.471+6T>C	XP_011522643.1:n.471+6T>C
XM_005257058.4:c.471+6T>C	XP_005257115.2:n.471+6T>C
XM_005257059.4:c.471+6T>C	XP_005257116.2:n.471+6T>C
NM_000088.4:c.471+6T>C MANE Select	NP_000079.2:n.471+6T>C