Canonical Allele Identifier: CA500991345

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50185564-A-G
• MyVariant Identifiers: chr17:g.48262925A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185564A>G , CM000679.2:g.50185564A>G	GRCh38
NC_000017.10:g.48262925A>G , CM000679.1:g.48262925A>G	GRCh37
NC_000017.9:g.45617924A>G	NCBI36
NG_007400.1:g.21076T>C , LRG_1:g.21076T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4333T>C MANE Select	ENSP00000225964.6:p.Leu1445=
ENST00000225964.9:c.4333T>C	ENSP00000225964.5:p.Leu1445=
NM_000088.3:c.4333T>C , LRG_1t1:c.4333T>C	NP_000079.2:p.Leu1445=
XM_005257058.3:c.4063T>C	XP_005257115.2:p.Leu1355=
XM_005257059.3:c.3415T>C	XP_005257116.2:p.Leu1139=
XM_011524341.1:c.4135T>C	XP_011522643.1:p.Leu1379=
XM_005257058.4:c.4063T>C	XP_005257115.2:p.Leu1355=
XM_005257059.4:c.3415T>C	XP_005257116.2:p.Leu1139=
NM_000088.4:c.4333T>C MANE Select	NP_000079.2:p.Leu1445=