Canonical Allele Identifier: CA291545471

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 449400
• ClinVar RCV Id: RCV000523564 ; RCV000803118
• dbSNP Id: rs72648343
• gnomAD v4: 17-50194768-G-A
• COSMIC: COSM1384181
• MyVariant Identifiers: chr17:g.48272129G>A (hg19) ; chr17:g.50194768G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194768G>A , CM000679.2:g.50194768G>A	GRCh38
NC_000017.10:g.48272129G>A , CM000679.1:g.48272129G>A	GRCh37
NC_000017.9:g.45627128G>A	NCBI36
NG_007400.1:g.11872C>T , LRG_1:g.11872C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1414C>T MANE Select	ENSP00000225964.6:p.Arg472Ter
ENST00000225964.9:c.1414C>T	ENSP00000225964.5:p.Arg472Ter
ENST00000471344.1:n.358C>T
NM_000088.3:c.1414C>T , LRG_1t1:c.1414C>T	NP_000079.2:p.Arg472Ter
XM_005257058.3:c.1414C>T	XP_005257115.2:p.Arg472Ter
XM_005257059.3:c.957+1546C>T	XP_005257116.2:n.957+1546C>T
XM_011524341.1:c.1216C>T	XP_011522643.1:p.Arg406Ter
XM_005257058.4:c.1414C>T	XP_005257115.2:p.Arg472Ter
XM_005257059.4:c.957+1546C>T	XP_005257116.2:n.957+1546C>T
NM_000088.4:c.1414C>T MANE Select	NP_000079.2:p.Arg472Ter