Canonical Allele Identifier: CA261266

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 41470
• ClinVar RCV Id: RCV000034355
• dbSNP Id: rs397514672
• MyVariant Identifiers: chr17:g.48263227G>A (hg19) ; chr17:g.50185866G>A (hg38)
• PubMed: PMID:21834035

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185866G>A , CM000679.2:g.50185866G>A	GRCh38
NC_000017.10:g.48263227G>A , CM000679.1:g.48263227G>A	GRCh37
NC_000017.9:g.45618226G>A	NCBI36
NG_007400.1:g.20774C>T , LRG_1:g.20774C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4160C>T MANE Select	ENSP00000225964.6:p.Ala1387Val
ENST00000225964.9:c.4160C>T	ENSP00000225964.5:p.Ala1387Val
ENST00000510710.3:n.1125C>T
NM_000088.3:c.4160C>T , LRG_1t1:c.4160C>T	NP_000079.2:p.Ala1387Val
XM_005257058.3:c.3890C>T	XP_005257115.2:p.Ala1297Val
XM_005257059.3:c.3242C>T	XP_005257116.2:p.Ala1081Val
XM_011524341.1:c.3962C>T	XP_011522643.1:p.Ala1321Val
XM_005257058.4:c.3890C>T	XP_005257115.2:p.Ala1297Val
XM_005257059.4:c.3242C>T	XP_005257116.2:p.Ala1081Val
NM_000088.4:c.4160C>T MANE Select	NP_000079.2:p.Ala1387Val