Canonical Allele Identifier: CA500849927

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50194751-G-T
• MyVariant Identifiers: chr17:g.48272112G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194751G>T , CM000679.2:g.50194751G>T	GRCh38
NC_000017.10:g.48272112G>T , CM000679.1:g.48272112G>T	GRCh37
NC_000017.9:g.45627111G>T	NCBI36
NG_007400.1:g.11889C>A , LRG_1:g.11889C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1431C>A MANE Select	ENSP00000225964.6:p.Pro477=
ENST00000225964.9:c.1431C>A	ENSP00000225964.5:p.Pro477=
ENST00000471344.1:n.375C>A
NM_000088.3:c.1431C>A , LRG_1t1:c.1431C>A	NP_000079.2:p.Pro477=
XM_005257058.3:c.1431C>A	XP_005257115.2:p.Pro477=
XM_005257059.3:c.957+1563C>A	XP_005257116.2:n.957+1563C>A
XM_011524341.1:c.1233C>A	XP_011522643.1:p.Pro411=
XM_005257058.4:c.1431C>A	XP_005257115.2:p.Pro477=
XM_005257059.4:c.957+1563C>A	XP_005257116.2:n.957+1563C>A
NM_000088.4:c.1431C>A MANE Select	NP_000079.2:p.Pro477=