Canonical Allele Identifier: CA500992103

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48266792A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50189431A>C , CM000679.2:g.50189431A>C	GRCh38
NC_000017.10:g.48266792A>C , CM000679.1:g.48266792A>C	GRCh37
NC_000017.9:g.45621791A>C	NCBI36
NG_007400.1:g.17209T>G , LRG_1:g.17209T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.2775T>G MANE Select	ENSP00000225964.6:p.Pro925=
ENST00000225964.9:c.2775T>G	ENSP00000225964.5:p.Pro925=
NM_000088.3:c.2775T>G , LRG_1t1:c.2775T>G	NP_000079.2:p.Pro925=
XM_005257058.3:c.2667+248T>G	XP_005257115.2:n.2667+248T>G
XM_005257059.3:c.1857T>G	XP_005257116.2:p.Pro619=
XM_011524341.1:c.2577T>G	XP_011522643.1:p.Pro859=
XM_005257058.4:c.2667+248T>G	XP_005257115.2:n.2667+248T>G
XM_005257059.4:c.1857T>G	XP_005257116.2:p.Pro619=
NM_000088.4:c.2775T>G MANE Select	NP_000079.2:p.Pro925=