Canonical Allele Identifier: CA400217676

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2981415
• ClinVar RCV Id: RCV003832557
• MyVariant Identifiers: chr17:g.48272105G>C (hg19) ; chr17:g.50194744G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194744G>C , CM000679.2:g.50194744G>C	GRCh38
NC_000017.10:g.48272105G>C , CM000679.1:g.48272105G>C	GRCh37
NC_000017.9:g.45627104G>C	NCBI36
NG_007400.1:g.11896C>G , LRG_1:g.11896C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1438C>G MANE Select	ENSP00000225964.6:p.Leu480Val
ENST00000225964.9:c.1438C>G	ENSP00000225964.5:p.Leu480Val
ENST00000471344.1:n.382C>G
NM_000088.3:c.1438C>G , LRG_1t1:c.1438C>G	NP_000079.2:p.Leu480Val
XM_005257058.3:c.1438C>G	XP_005257115.2:p.Leu480Val
XM_005257059.3:c.957+1570C>G	XP_005257116.2:n.957+1570C>G
XM_011524341.1:c.1240C>G	XP_011522643.1:p.Leu414Val
XM_005257058.4:c.1438C>G	XP_005257115.2:p.Leu480Val
XM_005257059.4:c.957+1570C>G	XP_005257116.2:n.957+1570C>G
NM_000088.4:c.1438C>G MANE Select	NP_000079.2:p.Leu480Val