Canonical Allele Identifier: CA260282

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 35904
• ClinVar RCV Id: RCV000029559 ; RCV001125671 ; RCV002251930 ; RCV000872415 ; RCV001703422 ; RCV001125670
• dbSNP Id: rs193922142
• ExAC: 17:48270416 G / A
• gnomAD v2: 17-48270416-G-A
• gnomAD v3: 17-50193055-G-A
• gnomAD v4: 17-50193055-G-A
• MyVariant Identifiers: chr17:g.48270416G>A (hg19) ; chr17:g.50193055G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193055G>A , CM000679.2:g.50193055G>A	GRCh38
NC_000017.10:g.48270416G>A , CM000679.1:g.48270416G>A	GRCh37
NC_000017.9:g.45625415G>A	NCBI36
NG_007400.1:g.13585C>T , LRG_1:g.13585C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1768-8C>T MANE Select	ENSP00000225964.6:n.1768-8C>T
ENST00000225964.9:c.1768-8C>T	ENSP00000225964.5:n.1768-8C>T
ENST00000476387.1:n.117-8C>T
NM_000088.3:c.1768-8C>T , LRG_1t1:c.1768-8C>T	NP_000079.2:n.1768-8C>T
XM_005257058.3:c.1768-8C>T	XP_005257115.2:n.1768-8C>T
XM_005257059.3:c.958-362C>T	XP_005257116.2:n.958-362C>T
XM_011524341.1:c.1570-8C>T	XP_011522643.1:n.1570-8C>T
XM_005257058.4:c.1768-8C>T	XP_005257115.2:n.1768-8C>T
XM_005257059.4:c.958-362C>T	XP_005257116.2:n.958-362C>T
NM_000088.4:c.1768-8C>T MANE Select	NP_000079.2:n.1768-8C>T