Canonical Allele Identifier: CA400213520

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1368118
• ClinVar RCV Id: RCV001874335
• dbSNP Id: rs2144563277
• MyVariant Identifiers: chr17:g.48269891T>C (hg19) ; chr17:g.50192530T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192530T>C , CM000679.2:g.50192530T>C	GRCh38
NC_000017.10:g.48269891T>C , CM000679.1:g.48269891T>C	GRCh37
NC_000017.9:g.45624890T>C	NCBI36
NG_007400.1:g.14110A>G , LRG_1:g.14110A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.1930-2A>G MANE Select	ENSP00000225964.6:n.1930-2A>G
ENST00000225964.9:c.1930-2A>G	ENSP00000225964.5:n.1930-2A>G
ENST00000476387.1:n.279-2A>G
NM_000088.3:c.1930-2A>G , LRG_1t1:c.1930-2A>G	NP_000079.2:n.1930-2A>G
XM_005257058.3:c.1930-2A>G	XP_005257115.2:n.1930-2A>G
XM_005257059.3:c.1012-2A>G	XP_005257116.2:n.1012-2A>G
XM_011524341.1:c.1732-2A>G	XP_011522643.1:n.1732-2A>G
XM_005257058.4:c.1930-2A>G	XP_005257115.2:n.1930-2A>G
XM_005257059.4:c.1012-2A>G	XP_005257116.2:n.1012-2A>G
NM_000088.4:c.1930-2A>G MANE Select	NP_000079.2:n.1930-2A>G