Canonical Allele Identifier: CA291542768

Gene: COL1A1

Linked Data

• dbSNP Id: rs1059475
• gnomAD v4: 17-50185601-G-T
• MyVariant Identifiers: chr17:g.48262962G>T (hg19) ; chr17:g.50185601G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185601G>T , CM000679.2:g.50185601G>T	GRCh38
NC_000017.10:g.48262962G>T , CM000679.1:g.48262962G>T	GRCh37
NC_000017.9:g.45617961G>T	NCBI36
NG_007400.1:g.21039C>A , LRG_1:g.21039C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4296C>A MANE Select	ENSP00000225964.6:p.Thr1432=
ENST00000225964.9:c.4296C>A	ENSP00000225964.5:p.Thr1432=
NM_000088.3:c.4296C>A , LRG_1t1:c.4296C>A	NP_000079.2:p.Thr1432=
XM_005257058.3:c.4026C>A	XP_005257115.2:p.Thr1342=
XM_005257059.3:c.3378C>A	XP_005257116.2:p.Thr1126=
XM_011524341.1:c.4098C>A	XP_011522643.1:p.Thr1366=
XM_005257058.4:c.4026C>A	XP_005257115.2:p.Thr1342=
XM_005257059.4:c.3378C>A	XP_005257116.2:p.Thr1126=
NM_000088.4:c.4296C>A MANE Select	NP_000079.2:p.Thr1432=