Canonical Allele Identifier: CA14422358

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1262303
• ClinVar RCV Id: RCV001667422
• dbSNP Id: rs2586494
• gnomAD v2: 17-48273155-A-C
• gnomAD v3: 17-50195794-A-C
• gnomAD v4: 17-50195794-A-C
• MyVariant Identifiers: chr17:g.48273155A>C (hg19) ; chr17:g.50195794A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195794A>C , CM000679.2:g.50195794A>C	GRCh38
NC_000017.10:g.48273155A>C , CM000679.1:g.48273155A>C	GRCh37
NC_000017.9:g.45628154A>C	NCBI36
NG_007400.1:g.10846T>G , LRG_1:g.10846T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1057-129T>G MANE Select	ENSP00000225964.6:n.1057-129T>G
ENST00000225964.9:c.1057-129T>G	ENSP00000225964.5:n.1057-129T>G
NM_000088.3:c.1057-129T>G , LRG_1t1:c.1057-129T>G	NP_000079.2:n.1057-129T>G
XM_005257058.3:c.1057-129T>G	XP_005257115.2:n.1057-129T>G
XM_005257059.3:c.957+520T>G	XP_005257116.2:n.957+520T>G
XM_011524341.1:c.958-316T>G	XP_011522643.1:n.958-316T>G
XM_005257058.4:c.1057-129T>G	XP_005257115.2:n.1057-129T>G
XM_005257059.4:c.957+520T>G	XP_005257116.2:n.957+520T>G
NM_000088.4:c.1057-129T>G MANE Select	NP_000079.2:n.1057-129T>G