Canonical Allele Identifier: CA8644370

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 287066
• ClinVar RCV Id: RCV000319514 ; RCV001127365 ; RCV001296479 ; RCV001127366 ; RCV002348009 ; RCV001127367
• dbSNP Id: rs199514372
• ExAC: 17:48264082 T / A
• gnomAD v2: 17-48264082-T-A
• gnomAD v3: 17-50186721-T-A
• gnomAD v4: 17-50186721-T-A
• MyVariant Identifiers: chr17:g.48264082T>A (hg19) ; chr17:g.50186721T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186721T>A , CM000679.2:g.50186721T>A	GRCh38
NC_000017.10:g.48264082T>A , CM000679.1:g.48264082T>A	GRCh37
NC_000017.9:g.45619081T>A	NCBI36
NG_007400.1:g.19919A>T , LRG_1:g.19919A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3733A>T MANE Select	ENSP00000225964.6:p.Ile1245Phe
ENST00000225964.9:c.3733A>T	ENSP00000225964.5:p.Ile1245Phe
ENST00000510710.3:n.402A>T
NM_000088.3:c.3733A>T , LRG_1t1:c.3733A>T	NP_000079.2:p.Ile1245Phe
XM_005257058.3:c.3463A>T	XP_005257115.2:p.Ile1155Phe
XM_005257059.3:c.2815A>T	XP_005257116.2:p.Ile939Phe
XM_011524341.1:c.3535A>T	XP_011522643.1:p.Ile1179Phe
XM_005257058.4:c.3463A>T	XP_005257115.2:p.Ile1155Phe
XM_005257059.4:c.2815A>T	XP_005257116.2:p.Ile939Phe
NM_000088.4:c.3733A>T MANE Select	NP_000079.2:p.Ile1245Phe