Canonical Allele Identifier: CA8645765

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 447142
• ClinVar RCV Id: RCV000516192 ; RCV001125941 ; RCV001125942 ; RCV001125940 ; RCV002060235 ; RCV003419892
• dbSNP Id: rs199523510
• ExAC: 17:48276966 G / A
• gnomAD v2: 17-48276966-G-A
• gnomAD v3: 17-50199605-G-A
• gnomAD v4: 17-50199605-G-A
• MyVariant Identifiers: chr17:g.48276966G>A (hg19) ; chr17:g.50199605G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199605G>A , CM000679.2:g.50199605G>A	GRCh38
NC_000017.10:g.48276966G>A , CM000679.1:g.48276966G>A	GRCh37
NC_000017.9:g.45631965G>A	NCBI36
NG_007400.1:g.7035C>T , LRG_1:g.7035C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.299-15C>T MANE Select	ENSP00000225964.6:n.299-15C>T
ENST00000225964.9:c.299-15C>T	ENSP00000225964.5:n.299-15C>T
ENST00000474644.1:n.418-15C>T
ENST00000507689.1:c.353-15C>T	ENSP00000460459.1:n.353-15C>T
NM_000088.3:c.299-15C>T , LRG_1t1:c.299-15C>T	NP_000079.2:n.299-15C>T
XM_005257058.3:c.299-15C>T	XP_005257115.2:n.299-15C>T
XM_005257059.3:c.299-15C>T	XP_005257116.2:n.299-15C>T
XM_011524341.1:c.299-15C>T	XP_011522643.1:n.299-15C>T
XM_005257058.4:c.299-15C>T	XP_005257115.2:n.299-15C>T
XM_005257059.4:c.299-15C>T	XP_005257116.2:n.299-15C>T
NM_000088.4:c.299-15C>T MANE Select	NP_000079.2:n.299-15C>T