Canonical Allele Identifier: CA500852216

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2896023
• ClinVar RCV Id: RCV003632588
• dbSNP Id: rs1169774521
• gnomAD v2: 17-48276683-G-A
• gnomAD v4: 17-50199322-G-A
• MyVariant Identifiers: chr17:g.48276683G>A (hg19) ; chr17:g.50199322G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199322G>A , CM000679.2:g.50199322G>A	GRCh38
NC_000017.10:g.48276683G>A , CM000679.1:g.48276683G>A	GRCh37
NC_000017.9:g.45631682G>A	NCBI36
NG_007400.1:g.7318C>T , LRG_1:g.7318C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.375C>T MANE Select	ENSP00000225964.6:p.Pro125=
ENST00000225964.9:c.375C>T	ENSP00000225964.5:p.Pro125=
ENST00000474644.1:n.596C>T
ENST00000507689.1:c.429C>T	ENSP00000460459.1:p.Pro143=
NM_000088.3:c.375C>T , LRG_1t1:c.375C>T	NP_000079.2:p.Pro125=
XM_005257058.3:c.375C>T	XP_005257115.2:p.Pro125=
XM_005257059.3:c.375C>T	XP_005257116.2:p.Pro125=
XM_011524341.1:c.375C>T	XP_011522643.1:p.Pro125=
XM_005257058.4:c.375C>T	XP_005257115.2:p.Pro125=
XM_005257059.4:c.375C>T	XP_005257116.2:p.Pro125=
NM_000088.4:c.375C>T MANE Select	NP_000079.2:p.Pro125=