Canonical Allele Identifier: CA500844340

Gene: COL1A1

Linked Data

• dbSNP Id: rs1373720952
• gnomAD v2: 17-48265487-A-G
• gnomAD v4: 17-50188126-A-G
• MyVariant Identifiers: chr17:g.48265487A>G (hg19) ; chr17:g.50188126A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188126A>G , CM000679.2:g.50188126A>G	GRCh38
NC_000017.10:g.48265487A>G , CM000679.1:g.48265487A>G	GRCh37
NC_000017.9:g.45620486A>G	NCBI36
NG_007400.1:g.18514T>C , LRG_1:g.18514T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3231T>C MANE Select	ENSP00000225964.6:p.Pro1077=
ENST00000225964.9:c.3231T>C	ENSP00000225964.5:p.Pro1077=
ENST00000486572.1:n.429T>C
ENST00000511732.1:n.555T>C
NM_000088.3:c.3231T>C , LRG_1t1:c.3231T>C	NP_000079.2:p.Pro1077=
XM_005257058.3:c.2961T>C	XP_005257115.2:p.Pro987=
XM_005257059.3:c.2313T>C	XP_005257116.2:p.Pro771=
XM_011524341.1:c.3033T>C	XP_011522643.1:p.Pro1011=
XM_005257058.4:c.2961T>C	XP_005257115.2:p.Pro987=
XM_005257059.4:c.2313T>C	XP_005257116.2:p.Pro771=
NM_000088.4:c.3231T>C MANE Select	NP_000079.2:p.Pro1077=