Canonical Allele Identifier: CA400227435

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1701979
• ClinVar RCV Id: RCV002277762
• dbSNP Id: rs2144591229
• MyVariant Identifiers: chr17:g.48276654G>C (hg19) ; chr17:g.50199293G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199293G>C , CM000679.2:g.50199293G>C	GRCh38
NC_000017.10:g.48276654G>C , CM000679.1:g.48276654G>C	GRCh37
NC_000017.9:g.45631653G>C	NCBI36
NG_007400.1:g.7347C>G , LRG_1:g.7347C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.404C>G MANE Select	ENSP00000225964.6:p.Pro135Arg
ENST00000225964.9:c.404C>G	ENSP00000225964.5:p.Pro135Arg
ENST00000474644.1:n.625C>G
ENST00000507689.1:c.458C>G	ENSP00000460459.1:p.Pro153Arg
NM_000088.3:c.404C>G , LRG_1t1:c.404C>G	NP_000079.2:p.Pro135Arg
XM_005257058.3:c.404C>G	XP_005257115.2:p.Pro135Arg
XM_005257059.3:c.404C>G	XP_005257116.2:p.Pro135Arg
XM_011524341.1:c.404C>G	XP_011522643.1:p.Pro135Arg
XM_005257058.4:c.404C>G	XP_005257115.2:p.Pro135Arg
XM_005257059.4:c.404C>G	XP_005257116.2:p.Pro135Arg
NM_000088.4:c.404C>G MANE Select	NP_000079.2:p.Pro135Arg