Canonical Allele Identifier: CA500991537

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50185808-G-A
• MyVariant Identifiers: chr17:g.48263169G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185808G>A , CM000679.2:g.50185808G>A	GRCh38
NC_000017.10:g.48263169G>A , CM000679.1:g.48263169G>A	GRCh37
NC_000017.9:g.45618168G>A	NCBI36
NG_007400.1:g.20832C>T , LRG_1:g.20832C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4218C>T MANE Select	ENSP00000225964.6:p.Phe1406=
ENST00000225964.9:c.4218C>T	ENSP00000225964.5:p.Phe1406=
NM_000088.3:c.4218C>T , LRG_1t1:c.4218C>T	NP_000079.2:p.Phe1406=
XM_005257058.3:c.3948C>T	XP_005257115.2:p.Phe1316=
XM_005257059.3:c.3300C>T	XP_005257116.2:p.Phe1100=
XM_011524341.1:c.4020C>T	XP_011522643.1:p.Phe1340=
XM_005257058.4:c.3948C>T	XP_005257115.2:p.Phe1316=
XM_005257059.4:c.3300C>T	XP_005257116.2:p.Phe1100=
NM_000088.4:c.4218C>T MANE Select	NP_000079.2:p.Phe1406=