Canonical Allele Identifier: CA2638704726

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2729093
• ClinVar RCV Id: RCV003518599
• gnomAD v4: 17-50190311-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50190311G>A , CM000679.2:g.50190311G>A	GRCh38
NC_000017.10:g.48267672G>A , CM000679.1:g.48267672G>A	GRCh37
NC_000017.9:g.45622671G>A	NCBI36
NG_007400.1:g.16329C>T , LRG_1:g.16329C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.2451+16C>T MANE Select	ENSP00000225964.6:n.2451+16C>T
ENST00000225964.9:c.2451+16C>T	ENSP00000225964.5:n.2451+16C>T
ENST00000494334.1:n.394C>T
NM_000088.3:c.2451+16C>T , LRG_1t1:c.2451+16C>T	NP_000079.2:n.2451+16C>T
XM_005257058.3:c.2451+16C>T	XP_005257115.2:n.2451+16C>T
XM_005257059.3:c.1533+16C>T	XP_005257116.2:n.1533+16C>T
XM_011524341.1:c.2253+16C>T	XP_011522643.1:n.2253+16C>T
XM_005257058.4:c.2451+16C>T	XP_005257115.2:n.2451+16C>T
XM_005257059.4:c.1533+16C>T	XP_005257116.2:n.1533+16C>T
NM_000088.4:c.2451+16C>T MANE Select	NP_000079.2:n.2451+16C>T