Canonical Allele Identifier: CA291550170

Gene: COL1A1

Linked Data

• dbSNP Id: rs564100929
• gnomAD v2: 17-48276348-G-T
• gnomAD v3: 17-50198987-G-T
• gnomAD v4: 17-50198987-G-T
• MyVariant Identifiers: chr17:g.48276348G>T (hg19) ; chr17:g.50198987G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198987G>T , CM000679.2:g.50198987G>T	GRCh38
NC_000017.10:g.48276348G>T , CM000679.1:g.48276348G>T	GRCh37
NC_000017.9:g.45631347G>T	NCBI36
NG_007400.1:g.7653C>A , LRG_1:g.7653C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.471+239C>A MANE Select	ENSP00000225964.6:n.471+239C>A
ENST00000225964.9:c.471+239C>A	ENSP00000225964.5:n.471+239C>A
NM_000088.3:c.471+239C>A , LRG_1t1:c.471+239C>A	NP_000079.2:n.471+239C>A
XM_005257058.3:c.471+239C>A	XP_005257115.2:n.471+239C>A
XM_005257059.3:c.471+239C>A	XP_005257116.2:n.471+239C>A
XM_011524341.1:c.471+239C>A	XP_011522643.1:n.471+239C>A
XM_005257058.4:c.471+239C>A	XP_005257115.2:n.471+239C>A
XM_005257059.4:c.471+239C>A	XP_005257116.2:n.471+239C>A
NM_000088.4:c.471+239C>A MANE Select	NP_000079.2:n.471+239C>A