Canonical Allele Identifier: CA400227443

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50199296-A-G
• MyVariant Identifiers: chr17:g.48276657A>G (hg19) ; chr17:g.50199296A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199296A>G , CM000679.2:g.50199296A>G	GRCh38
NC_000017.10:g.48276657A>G , CM000679.1:g.48276657A>G	GRCh37
NC_000017.9:g.45631656A>G	NCBI36
NG_007400.1:g.7344T>C , LRG_1:g.7344T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.401T>C MANE Select	ENSP00000225964.6:p.Ile134Thr
ENST00000225964.9:c.401T>C	ENSP00000225964.5:p.Ile134Thr
ENST00000474644.1:n.622T>C
ENST00000507689.1:c.455T>C	ENSP00000460459.1:p.Ile152Thr
NM_000088.3:c.401T>C , LRG_1t1:c.401T>C	NP_000079.2:p.Ile134Thr
XM_005257058.3:c.401T>C	XP_005257115.2:p.Ile134Thr
XM_005257059.3:c.401T>C	XP_005257116.2:p.Ile134Thr
XM_011524341.1:c.401T>C	XP_011522643.1:p.Ile134Thr
XM_005257058.4:c.401T>C	XP_005257115.2:p.Ile134Thr
XM_005257059.4:c.401T>C	XP_005257116.2:p.Ile134Thr
NM_000088.4:c.401T>C MANE Select	NP_000079.2:p.Ile134Thr