Canonical Allele Identifier: CA8644225

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1144778
• ClinVar RCV Id: RCV001483391 ; RCV002329581 ; RCV004550242
• dbSNP Id: rs369138260
• ExAC: 17:48263163 G / A
• gnomAD v2: 17-48263163-G-A
• gnomAD v3: 17-50185802-G-A
• gnomAD v4: 17-50185802-G-A
• MyVariant Identifiers: chr17:g.48263163G>A (hg19) ; chr17:g.50185802G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185802G>A , CM000679.2:g.50185802G>A	GRCh38
NC_000017.10:g.48263163G>A , CM000679.1:g.48263163G>A	GRCh37
NC_000017.9:g.45618162G>A	NCBI36
NG_007400.1:g.20838C>T , LRG_1:g.20838C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4224C>T MANE Select	ENSP00000225964.6:p.Tyr1408=
ENST00000225964.9:c.4224C>T	ENSP00000225964.5:p.Tyr1408=
NM_000088.3:c.4224C>T , LRG_1t1:c.4224C>T	NP_000079.2:p.Tyr1408=
XM_005257058.3:c.3954C>T	XP_005257115.2:p.Tyr1318=
XM_005257059.3:c.3306C>T	XP_005257116.2:p.Tyr1102=
XM_011524341.1:c.4026C>T	XP_011522643.1:p.Tyr1342=
XM_005257058.4:c.3954C>T	XP_005257115.2:p.Tyr1318=
XM_005257059.4:c.3306C>T	XP_005257116.2:p.Tyr1102=
NM_000088.4:c.4224C>T MANE Select	NP_000079.2:p.Tyr1408=