Canonical Allele Identifier: CA400217677

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50194744-G-T
• MyVariant Identifiers: chr17:g.48272105G>T (hg19) ; chr17:g.50194744G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1438C>A MANE Select	ENSP00000225964.6:p.Leu480Met
ENST00000225964.9:c.1438C>A	ENSP00000225964.5:p.Leu480Met
ENST00000471344.1:n.382C>A
NM_000088.3:c.1438C>A , LRG_1t1:c.1438C>A	NP_000079.2:p.Leu480Met
XM_005257058.3:c.1438C>A	XP_005257115.2:p.Leu480Met
XM_005257059.3:c.957+1570C>A	XP_005257116.2:n.957+1570C>A
XM_011524341.1:c.1240C>A	XP_011522643.1:p.Leu414Met
XM_005257058.4:c.1438C>A	XP_005257115.2:p.Leu480Met
XM_005257059.4:c.957+1570C>A	XP_005257116.2:n.957+1570C>A
NM_000088.4:c.1438C>A MANE Select	NP_000079.2:p.Leu480Met