Canonical Allele Identifier: CA291543054

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 497922
• ClinVar RCV Id: RCV002531008
• dbSNP Id: rs866785621
• gnomAD v3: 17-50188522-C-A
• gnomAD v4: 17-50188522-C-A
• MyVariant Identifiers: chr17:g.48265883C>A (hg19) ; chr17:g.50188522C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188522C>A , CM000679.2:g.50188522C>A	GRCh38
NC_000017.10:g.48265883C>A , CM000679.1:g.48265883C>A	GRCh37
NC_000017.9:g.45620882C>A	NCBI36
NG_007400.1:g.18118G>T , LRG_1:g.18118G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.3207+8G>T MANE Select	ENSP00000225964.6:n.3207+8G>T
ENST00000225964.9:c.3207+8G>T	ENSP00000225964.5:n.3207+8G>T
ENST00000486572.1:n.33G>T
ENST00000511732.1:n.159G>T
NM_000088.3:c.3207+8G>T , LRG_1t1:c.3207+8G>T	NP_000079.2:n.3207+8G>T
XM_005257058.3:c.2937+8G>T	XP_005257115.2:n.2937+8G>T
XM_005257059.3:c.2289+8G>T	XP_005257116.2:n.2289+8G>T
XM_011524341.1:c.3009+8G>T	XP_011522643.1:n.3009+8G>T
XM_005257058.4:c.2937+8G>T	XP_005257115.2:n.2937+8G>T
XM_005257059.4:c.2289+8G>T	XP_005257116.2:n.2289+8G>T
NM_000088.4:c.3207+8G>T MANE Select	NP_000079.2:n.3207+8G>T