Canonical Allele Identifier: CA400217499

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1364729
• ClinVar RCV Id: RCV001942481
• dbSNP Id: rs72648348
• MyVariant Identifiers: chr17:g.48271978C>T (hg19) ; chr17:g.50194617C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194617C>T , CM000679.2:g.50194617C>T	GRCh38
NC_000017.10:g.48271978C>T , CM000679.1:g.48271978C>T	GRCh37
NC_000017.9:g.45626977C>T	NCBI36
NG_007400.1:g.12023G>A , LRG_1:g.12023G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1471G>A MANE Select	ENSP00000225964.6:p.Gly491Ser
ENST00000225964.9:c.1471G>A	ENSP00000225964.5:p.Gly491Ser
ENST00000471344.1:n.415G>A
NM_000088.3:c.1471G>A , LRG_1t1:c.1471G>A	NP_000079.2:p.Gly491Ser
XM_005257058.3:c.1471G>A	XP_005257115.2:p.Gly491Ser
XM_005257059.3:c.957+1697G>A	XP_005257116.2:n.957+1697G>A
XM_011524341.1:c.1273G>A	XP_011522643.1:p.Gly425Ser
XM_005257058.4:c.1471G>A	XP_005257115.2:p.Gly491Ser
XM_005257059.4:c.957+1697G>A	XP_005257116.2:n.957+1697G>A
NM_000088.4:c.1471G>A MANE Select	NP_000079.2:p.Gly491Ser