Canonical Allele Identifier: CA400217782

Gene: COL1A1

Linked Data

• dbSNP Id: rs1362175682
• gnomAD v2: 17-48272128-C-T
• gnomAD v4: 17-50194767-C-T
• COSMIC: COSM3519049
• MyVariant Identifiers: chr17:g.48272128C>T (hg19) ; chr17:g.50194767C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194767C>T , CM000679.2:g.50194767C>T	GRCh38
NC_000017.10:g.48272128C>T , CM000679.1:g.48272128C>T	GRCh37
NC_000017.9:g.45627127C>T	NCBI36
NG_007400.1:g.11873G>A , LRG_1:g.11873G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1415G>A MANE Select	ENSP00000225964.6:p.Arg472Gln
ENST00000225964.9:c.1415G>A	ENSP00000225964.5:p.Arg472Gln
ENST00000471344.1:n.359G>A
NM_000088.3:c.1415G>A , LRG_1t1:c.1415G>A	NP_000079.2:p.Arg472Gln
XM_005257058.3:c.1415G>A	XP_005257115.2:p.Arg472Gln
XM_005257059.3:c.957+1547G>A	XP_005257116.2:n.957+1547G>A
XM_011524341.1:c.1217G>A	XP_011522643.1:p.Arg406Gln
XM_005257058.4:c.1415G>A	XP_005257115.2:p.Arg472Gln
XM_005257059.4:c.957+1547G>A	XP_005257116.2:n.957+1547G>A
NM_000088.4:c.1415G>A MANE Select	NP_000079.2:p.Arg472Gln