Canonical Allele Identifier: CA400214829

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 871165
• ClinVar RCV Id: RCV001090963
• dbSNP Id: rs1907214691
• MyVariant Identifiers: chr17:g.48270193C>A (hg19) ; chr17:g.50192832C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192832C>A , CM000679.2:g.50192832C>A	GRCh38
NC_000017.10:g.48270193C>A , CM000679.1:g.48270193C>A	GRCh37
NC_000017.9:g.45625192C>A	NCBI36
NG_007400.1:g.13808G>T , LRG_1:g.13808G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1840G>T MANE Select	ENSP00000225964.6:p.Gly614Ter
ENST00000225964.9:c.1840G>T	ENSP00000225964.5:p.Gly614Ter
ENST00000476387.1:n.189G>T
NM_000088.3:c.1840G>T , LRG_1t1:c.1840G>T	NP_000079.2:p.Gly614Ter
XM_005257058.3:c.1840G>T	XP_005257115.2:p.Gly614Ter
XM_005257059.3:c.958-139G>T	XP_005257116.2:n.958-139G>T
XM_011524341.1:c.1642G>T	XP_011522643.1:p.Gly548Ter
XM_005257058.4:c.1840G>T	XP_005257115.2:p.Gly614Ter
XM_005257059.4:c.958-139G>T	XP_005257116.2:n.958-139G>T
NM_000088.4:c.1840G>T MANE Select	NP_000079.2:p.Gly614Ter