Canonical Allele Identifier: CA500851579

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50197040-T-C
• MyVariant Identifiers: chr17:g.48274401T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50197040T>C , CM000679.2:g.50197040T>C	GRCh38
NC_000017.10:g.48274401T>C , CM000679.1:g.48274401T>C	GRCh37
NC_000017.9:g.45629400T>C	NCBI36
NG_007400.1:g.9600A>G , LRG_1:g.9600A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.774A>G MANE Select	ENSP00000225964.6:p.Thr258=
ENST00000225964.9:c.774A>G	ENSP00000225964.5:p.Thr258=
ENST00000495677.1:n.501A>G
NM_000088.3:c.774A>G , LRG_1t1:c.774A>G	NP_000079.2:p.Thr258=
XM_005257058.3:c.774A>G	XP_005257115.2:p.Thr258=
XM_005257059.3:c.774A>G	XP_005257116.2:p.Thr258=
XM_011524341.1:c.774A>G	XP_011522643.1:p.Thr258=
XM_005257058.4:c.774A>G	XP_005257115.2:p.Thr258=
XM_005257059.4:c.774A>G	XP_005257116.2:p.Thr258=
NM_000088.4:c.774A>G MANE Select	NP_000079.2:p.Thr258=