Canonical Allele Identifier: CA772794824

Gene: COL1A1

Linked Data

• dbSNP Id: rs754186993
• gnomAD v4: 17-50197083-A-G
• MyVariant Identifiers: chr17:g.48274444A>G (hg19) ; chr17:g.50197083A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50197083A>G , CM000679.2:g.50197083A>G	GRCh38
NC_000017.10:g.48274444A>G , CM000679.1:g.48274444A>G	GRCh37
NC_000017.9:g.45629443A>G	NCBI36
NG_007400.1:g.9557T>C , LRG_1:g.9557T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.751-20T>C MANE Select	ENSP00000225964.6:n.751-20T>C
ENST00000225964.9:c.751-20T>C	ENSP00000225964.5:n.751-20T>C
ENST00000495677.1:n.478-20T>C
NM_000088.3:c.751-20T>C , LRG_1t1:c.751-20T>C	NP_000079.2:n.751-20T>C
XM_005257058.3:c.751-20T>C	XP_005257115.2:n.751-20T>C
XM_005257059.3:c.751-20T>C	XP_005257116.2:n.751-20T>C
XM_011524341.1:c.751-20T>C	XP_011522643.1:n.751-20T>C
XM_005257058.4:c.751-20T>C	XP_005257115.2:n.751-20T>C
XM_005257059.4:c.751-20T>C	XP_005257116.2:n.751-20T>C
NM_000088.4:c.751-20T>C MANE Select	NP_000079.2:n.751-20T>C