Canonical Allele Identifier: CA8645567

Gene: COL1A1

Linked Data

• dbSNP Id: rs751040198
• ExAC: 17:48274500 A / G
• gnomAD v2: 17-48274500-A-G
• gnomAD v3: 17-50197139-A-G
• gnomAD v4: 17-50197139-A-G
• MyVariant Identifiers: chr17:g.48274500A>G (hg19) ; chr17:g.50197139A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50197139A>G , CM000679.2:g.50197139A>G	GRCh38
NC_000017.10:g.48274500A>G , CM000679.1:g.48274500A>G	GRCh37
NC_000017.9:g.45629499A>G	NCBI36
NG_007400.1:g.9501T>C , LRG_1:g.9501T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.750+41T>C MANE Select	ENSP00000225964.6:n.750+41T>C
ENST00000225964.9:c.750+41T>C	ENSP00000225964.5:n.750+41T>C
ENST00000495677.1:n.477+41T>C
NM_000088.3:c.750+41T>C , LRG_1t1:c.750+41T>C	NP_000079.2:n.750+41T>C
XM_005257058.3:c.750+41T>C	XP_005257115.2:n.750+41T>C
XM_005257059.3:c.750+41T>C	XP_005257116.2:n.750+41T>C
XM_011524341.1:c.750+41T>C	XP_011522643.1:n.750+41T>C
XM_005257058.4:c.750+41T>C	XP_005257115.2:n.750+41T>C
XM_005257059.4:c.750+41T>C	XP_005257116.2:n.750+41T>C
NM_000088.4:c.750+41T>C MANE Select	NP_000079.2:n.750+41T>C