Canonical Allele Identifier: CA400200497

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 488809
• ClinVar RCV Id: RCV003313966
• dbSNP Id: rs1555572239
• gnomAD v4: 17-50188529-C-T
• MyVariant Identifiers: chr17:g.48265890C>T (hg19) ; chr17:g.50188529C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188529C>T , CM000679.2:g.50188529C>T	GRCh38
NC_000017.10:g.48265890C>T , CM000679.1:g.48265890C>T	GRCh37
NC_000017.9:g.45620889C>T	NCBI36
NG_007400.1:g.18111G>A , LRG_1:g.18111G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.3207+1G>A MANE Select	ENSP00000225964.6:n.3207+1G>A
ENST00000225964.9:c.3207+1G>A	ENSP00000225964.5:n.3207+1G>A
ENST00000486572.1:n.26G>A
ENST00000511732.1:n.152G>A
NM_000088.3:c.3207+1G>A , LRG_1t1:c.3207+1G>A	NP_000079.2:n.3207+1G>A
XM_005257058.3:c.2937+1G>A	XP_005257115.2:n.2937+1G>A
XM_005257059.3:c.2289+1G>A	XP_005257116.2:n.2289+1G>A
XM_011524341.1:c.3009+1G>A	XP_011522643.1:n.3009+1G>A
XM_005257058.4:c.2937+1G>A	XP_005257115.2:n.2937+1G>A
XM_005257059.4:c.2289+1G>A	XP_005257116.2:n.2289+1G>A
NM_000088.4:c.3207+1G>A MANE Select	NP_000079.2:n.3207+1G>A