Canonical Allele Identifier: CA8644438

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 324101
• ClinVar RCV Id: RCV000304006 ; RCV000354143 ; RCV000404536 ; RCV000543436 ; RCV001718678
• dbSNP Id: rs370865189
• ExAC: 17:48264489 G / T
• gnomAD v2: 17-48264489-G-T
• gnomAD v3: 17-50187128-G-T
• gnomAD v4: 17-50187128-G-T
• MyVariant Identifiers: chr17:g.48264489G>T (hg19) ; chr17:g.50187128G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50187128G>T , CM000679.2:g.50187128G>T	GRCh38
NC_000017.10:g.48264489G>T , CM000679.1:g.48264489G>T	GRCh37
NC_000017.9:g.45619488G>T	NCBI36
NG_007400.1:g.19512C>A , LRG_1:g.19512C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3424-6C>A MANE Select	ENSP00000225964.6:n.3424-6C>A
ENST00000225964.9:c.3424-6C>A	ENSP00000225964.5:n.3424-6C>A
NM_000088.3:c.3424-6C>A , LRG_1t1:c.3424-6C>A	NP_000079.2:n.3424-6C>A
XM_005257058.3:c.3154-6C>A	XP_005257115.2:n.3154-6C>A
XM_005257059.3:c.2506-6C>A	XP_005257116.2:n.2506-6C>A
XM_011524341.1:c.3226-6C>A	XP_011522643.1:n.3226-6C>A
XM_005257058.4:c.3154-6C>A	XP_005257115.2:n.3154-6C>A
XM_005257059.4:c.2506-6C>A	XP_005257116.2:n.2506-6C>A
NM_000088.4:c.3424-6C>A MANE Select	NP_000079.2:n.3424-6C>A