Canonical Allele Identifier: CA500850578

Gene: COL1A1

Linked Data

• dbSNP Id: rs1237735571
• gnomAD v2: 17-48272163-A-G
• MyVariant Identifiers: chr17:g.48272163A>G (hg19) ; chr17:g.50194802A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194802A>G , CM000679.2:g.50194802A>G	GRCh38
NC_000017.10:g.48272163A>G , CM000679.1:g.48272163A>G	GRCh37
NC_000017.9:g.45627162A>G	NCBI36
NG_007400.1:g.11838T>C , LRG_1:g.11838T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1380T>C MANE Select	ENSP00000225964.6:p.Pro460=
ENST00000225964.9:c.1380T>C	ENSP00000225964.5:p.Pro460=
ENST00000471344.1:n.324T>C
NM_000088.3:c.1380T>C , LRG_1t1:c.1380T>C	NP_000079.2:p.Pro460=
XM_005257058.3:c.1380T>C	XP_005257115.2:p.Pro460=
XM_005257059.3:c.957+1512T>C	XP_005257116.2:n.957+1512T>C
XM_011524341.1:c.1182T>C	XP_011522643.1:p.Pro394=
XM_005257058.4:c.1380T>C	XP_005257115.2:p.Pro460=
XM_005257059.4:c.957+1512T>C	XP_005257116.2:n.957+1512T>C
NM_000088.4:c.1380T>C MANE Select	NP_000079.2:p.Pro460=